Provided by: plink2_2.00~a3.3-220801+dfsg-1_amd64 
NAME
PLINK - whole genome SNP analysis
DESCRIPTION
PLINK v2.00a3 64-bit (9 Apr 2020) www.cog-genomics.org/plink/2.0/ (C)
2005-2020 Shaun Purcell, Christopher Chang GNU General Public License v3
In the command line flag definitions that follow,
* <angle brackets> denote a required parameter, where the text between the
angle brackets describes its nature.
* ['square brackets + single-quotes'] denotes an optional modifier.
Use the
EXACT text in the quotes.
* [{bar|separated|braced|bracketed|values}] denotes a collection of mutually
exclusive optional modifiers (again, the exact text must be used).
When
there are no outer square brackets, one of the choices must be selected.
* ['quoted_text='<description of value>] denotes an optional modifier that
must begin with the quoted text, and be followed by a value with no whitespace in
between. '|' may also be used here to indicate mutually exclusive options.
* [square brackets without quotes or braces] denote an optional parameter,
where the text between the brackets describes its nature.
* An ellipsis (...) indicates that you may enter multiple arguments of the
specified type.
* A "column set descriptor" is either
1. a comma-separated sequence of column set names; this is interpreted as
the full list of column sets to include.
2. a comma-separated sequence of column set names, all preceded by '+' or
'-'; this is interpreted as a list of changes to the default.
plink2 <input flag(s)...> [command flag(s)...] [other flag(s)...] plink2 --help
[flag name(s)...]
Most PLINK runs require exactly one main input fileset. The following flags are available
for defining its form and location:
--pfile <prefix> ['vzs']
: Specify .pgen + .pvar[.zst] + .psam prefix.
--pgen <filename>
: Specify full name of .pgen/.bed file.
--pvar <filename>
: Specify full name of .pvar/.bim file.
--psam <filename>
: Specify full name of .psam/.fam file.
--bfile
<prefix> ['vzs'] : Specify .bed + .bim[.zst] + .fam prefix.
--bpfile <prefix> ['vzs'] : Specify .pgen + .bim[.zst] + .fam prefix.
--keep-autoconv ['vzs']
: When importing non-PLINK-binary data, don't delete autogenerated fileset at end
of run.
--no-fid
: .fam file does not contain column 1 (family ID).
--no-parents
: .fam file does not contain columns 3-4 (parents).
--no-sex
: .fam file does not contain column 5 (sex).
--vcf <filename> ['dosage='<field>]
--bcf <filename> ['dosage='<field>] :
Specify full name of .vcf{|.gz|.zst} or BCF2 file to import. * These can be used
with --psam/--fam. * By default, dosage information is not imported. To import
the GP field
(must be VCFv4.3-style 0..1, one probability per possible genotype), add
'dosage=GP' (or 'dosage=GP-force', see below). To import Minimac3-style DS+HDS
phased dosage, add 'dosage=HDS'. 'dosage=DS' (or anything else for now) causes the
named field to be interpreted as a Minimac3-style dosage. Note that, in the
dosage=GP case, PLINK 2 collapses the probabilities down to dosages; you cannot use
PLINK 2 to losslessly convert VCF FORMAT:GP data to e.g. BGEN format. To make this
more obvious, PLINK 2 now errors out when dosage=GP is used on a file with a
FORMAT:DS header line and --import-dosage-certainty wasn't specified, since
dosage=DS extracts the same information more quickly in this situation. You can
suppress this error with 'dosage=GP-force'. In all of these cases, hardcalls are
regenerated from scratch from the dosages. As a consequence, variants with no GT
field can now be imported; they will be assumed to contain only diploid calls when
HDS is also absent.
--data <filename prefix> <REF/ALT mode> ['gzs']
--bgen <filename> <REF/ALT mode> ['snpid-chr']
--gen <filename> <REF/ALT mode>
--sample <filename> :
Specify an Oxford-format dataset to import.
--data specifies a .gen[.zst]
+ .sample pair, while --bgen specifies a BGEN v1.1+ file. * If a BGEN v1.2+ file
contains sample IDs, it may be imported without a
companion .sample file.
* With 'snpid-chr', chromosome codes are read from the 'SNP ID' field
instead of the usual chromosome field.
* The following REF/ALT modes are supported:
'ref-first': The first allele for each variant is REF. 'ref-last': The last allele
for each variant is REF. 'ref-unknown': The last allele for each variant is
treated as
provisional-REF.
--haps <filename> [{ref-first | ref-last}]
--legend <filename> <chr code> :
Specify .haps [+ .legend] file(s) to import. * When --legend is specified, it's
assumed that the --haps file doesn't
contain header columns.
* On chrX, the second male column may contain dummy '-' entries.
(However,
PLINK 2 currently cannot handle omitted male columns.)
* If not used with --sample, new sample IDs are of the form 'per#/per#'.
--map <filename>
: Specify full name of .map file.
--import-dosage <allele dosage file> ['noheader'] ['id-delim='<char>]
['skip0='<i>] ['skip1='<j>] ['skip2='<k>] ['dose1'] ['format='<m>] [{ref-first |
ref-last}] ['single-chr='<code>] ['chr-col-num='<#>] ['pos-col-num='<#>] :
Specify PLINK 1.x-style dosage file to import. * You must also specify a companion
.psam/.fam file. * By default, PLINK assumes that the file contains a header line,
which has
'SNP' in (1-based) column i+1, 'A1' in column i+j+2, 'A2' in column i+j+3, and
sample FID/IIDs starting from column i+j+k+4. (i/j/k are normally zero, but can be
changed with 'skip0', 'skip1', and 'skip2' respectively. FID/IID are normally
assumed to be separate tokens, but if they're merged into a single token you can
specify the delimiter with 'id-delim='.) If such a header line is not present, use
the 'noheader' modifier; samples will then be assumed to appear in the same order
as they do in the .psam/.fam file.
* You may specify a companion .map file.
If you do not,
* 'single-chr=' can be used to specify that all variants are on the named
chromosome.
Otherwise, you can use 'chr-col-num=' to read chromosome
codes from the given (1-based) column number.
* 'pos-col-num=' causes bp coordinates to be read from the given column
number.
* The 'format=' modifier lets you specify the number of values used to
represent each dosage.
'format=1' normally indicates a single 0..2 A1
expected count; 'dose1' modifies this to a 0..1 frequency.
'format=2'
indicates a 0..1 homozygous A1 likelihood followed by a 0..1 het likelihood.
'format=3' indicates 0..1 hom A1, 0..1 het, 0..1 hom A2. 'format=infer' (the
default) infers the format from the number of columns in the first nonheader line.
--dummy <sample ct> <SNP ct> [missing dosage freq] [missing pheno freq]
[{acgt | 1234 | 12}] ['pheno-ct='<count>] ['scalar-pheno'] ['dosage-freq='<rate>]
This generates a fake input dataset with the specified number of samples and SNPs.
* By default, the missing dosage and phenotype frequencies are zero.
These can be changed by providing 3rd and 4th numeric arguments.
* By default, allele codes are As and Bs; this can be changed with the
'acgt', '1234', or '12' modifier.
* By default, one binary phenotype is generated.
'pheno-ct=' can be used
to change the number of phenotypes, and 'scalar-pheno' causes these phenotypes to
be normally distributed scalars.
* By default, all (nonmissing) dosages are in {0,1,2}.
To make some of
them take on decimal values, use 'dosage-freq='.
(These dosages are
affected by --hard-call-threshold and --dosage-erase-threshold.)
--fa <filename>
: Specify full name of reference FASTA file.
Output files have names of the form 'plink2.<extension>' by default. You can change the
'plink2' prefix with
--out <prefix>
: Specify prefix for output files.
Most runs also require at least one of the following commands:
--rm-dup [mode] ['list']
Remove all but one instance of each duplicate-ID variant (ignoring the missing ID),
and (with the 'list' modifier) write a list of duplicated IDs to <output
prefix>.rmdup.list. The following modes of operation are supported: * 'error'
(default) causes this to error out when there's a genotype data
or other mismatch between the records.
A list of affected IDs is written
to <output prefix>.rmdup.mismatch.
* 'retain-mismatch' causes all instances of a duplicate-ID variant to be
retained when there's a genotype data or variant info mismatch; otherwise one
instance is kept. The .rmdup.mismatch file is also written.
* 'exclude-mismatch' removes all instances of duplicate-ID mismatched
variants instead.
* 'exclude-all' causes all instances of duplicate-ID variants to be
removed, even when the actual records are identical.
* 'force-first' causes only the first instance of duplicate-ID variants to
be kept, under all circumstances.
--make-pgen ['vzs'] ['format='<code>] ['trim-alts'] ['erase-phase']
['erase-dosage'] ['pvar-cols='<col set descriptor>] ['psam-cols='<col set
descriptor>]
--make-bpgen ['vzs'] ['format='<code>] ['trim-alts'] ['erase-phase']
['erase-dosage']
--make-bed ['vzs'] ['trim-alts']
Create a new PLINK 2 binary fileset (--make-pgen = .pgen + .pvar[.zst] + .psam,
--make-bpgen = .pgen + .bim[.zst] + .fam). * Unlike the automatic text-to-binary
converters (which only heed
chromosome filters), this supports all of PLINK's filtering flags.
* The 'vzs' modifier causes the variant file (.pvar/.bim) to be
Zstd-compressed.
* The 'format' modifier requests an uncompressed fixed-variant-width .pgen
file.
(These do not directly support multiallelic variants.) The
following format code is currently supported:
2: just like .bed, except with an extended (12-byte instead of 3-byte)
header containing variant/sample counts, and rotated genotype codes (00 = hom ref,
01 = het, 10 = hom alt, 11 = missing).
* The 'erase-phase' and 'erase-dosage' modifiers prevent phase and dosage
information from being written to the new .pgen.
* The first five columns of a .pvar file are always #CHROM/POS/ID/REF/ALT.
Supported optional .pvar column sets are:
xheader: All ## header lines (yeah, this is technically not a column),
except for possibly FILTER/INFO definitions when those column(s) have been removed.
Without this, only the #CHROM header line is kept.
vcfheader: xheader, with additions to make it a valid VCF header. maybequal: QUAL.
Omitted if all remaining values are missing. qual: Force QUAL column to be written
even when empty. maybefilter: FILTER. Omitted if all remaining values are
missing. filter: Force FILTER column to be written even when empty. maybeinfo:
INFO. Omitted if all remaining values are missing, or if
INFO:PR is the only subfield.
info: Force INFO column to be written. maybecm: Centimorgan coordinate. Omitted
if all remaining values = 0. cm: Force CM column to be written even when empty.
The default is xheader,maybequal,maybefilter,maybeinfo,maybecm.
* Supported column sets for the .psam file are:
maybefid: Family ID, '0' = missing.
Omitted if all values missing.
fid: Force FID column to be written even when empty. maybesid: Source ID, '0' =
missing. Omitted if all values missing. sid: Force SID column to be written even
when empty. maybeparents: Father and mother IIDs. Omitted if all values missing.
parents: Force PAT and MAT columns to be written even when empty. sex: '1' = male,
'2' = female, 'NA' = missing. pheno1: First active phenotype. If none, all column
entries are set to
the --output-missing-phenotype string.
phenos: All active phenotypes, if any.
(Can be combined with pheno1 to
force at least one phenotype column to be written.)
The default is maybefid,maybesid,maybeparents,sex,phenos.
--make-just-pvar ['zs'] ['cols='<column set descriptor>]
--make-just-psam ['cols='<column set descriptor>]
--make-just-bim ['zs']
--make-just-fam
Variants of --make-pgen/--make-bed which only write a new variant or sample file.
These don't always require an input genotype file. USE THESE CAUTIOUSLY. It is
very easy to desynchronize your binary genotype data and your sample/variant
indexes if you use these commands improperly. If you have any doubt, stick with
--make-[b]pgen/--make-bed.
--export <output format(s)...> [{01 | 12}] ['bgz'] ['id-delim='<char>]
['id-paste='<column set descriptor>] ['include-alt'] ['omit-nonmale-y'] ['spaces']
['vcf-dosage='<field>] ['ref-first'] ['bits='<#>]
Create a new fileset with all filters applied.
The following output
formats are supported: (actually, only A, AD, A-transpose, bcf, bgen-1.x, haps,
hapslegend, ind-major-bed, oxford, and vcf are implemented for now) * '23': 23andMe
4-column format. This can only be used on a single
sample's data (--keep may be handy), and does not support multicharacter allele
codes.
* 'A': Sample-major additive (0/1/2) coding, suitable for loading from R.
If you need uncounted alleles to be named in the header line, add the 'include-alt'
modifier.
* 'AD': Sample-major additive (0/1/2) + dominant (het=1/hom=0) coding.
Also supports 'include-alt'.
* 'A-transpose': Variant-major 0/1/2. * 'beagle': Unphased per-autosome .dat and
.map files, readable by early
BEAGLE versions.
* 'beagle-nomap': Single .beagle.dat file. * 'bgen-1.x': Oxford-format .bgen +
.sample. For v1.2/v1.3, sample
identifiers are stored in the .bgen (with id-delim and id-paste settings applied),
and default precision is 16-bit (use the 'bits' modifier to reduce this).
* 'bimbam': Regular BIMBAM format. * 'bimbam-1chr': BIMBAM format, with a
two-column .pos.txt file. Does not
support multiple chromosomes.
* 'fastphase': Per-chromosome fastPHASE files, with
.chr-<chr #>.phase.inp filename extensions.
* 'fastphase-1chr': Single .phase.inp file.
Does not support
multiple chromosomes.
* 'haps', 'hapslegend': Oxford-format .haps + .sample[ + .legend].
All
data must be biallelic and phased.
When the 'bgz'
modifier is present, the .haps file is
block-gzipped.
* 'HV': Per-chromosome Haploview files, with .chr-<chr #>{.ped,.info}
filename extensions.
* 'HV-1chr': Single Haploview .ped + .info file pair.
Does not support
multiple chromosomes.
* 'ind-major-bed': PLINK 1 sample-major .bed (+ .bim + .fam). * 'lgen': PLINK 1
long-format (.lgen + .fam + .map), loadable with --lfile. * 'lgen-ref': .lgen +
.fam + .map + .ref, loadable with --lfile +
--reference.
* 'list': Single genotype-based list, up to 4 lines per variant.
To omit
nonmale genotypes on the Y chromosome, add the 'omit-nonmale-y' modifier.
* 'rlist': .rlist + .fam + .map fileset, where the .rlist file is a
genotype-based list which omits the most common genotype for each variant. Also
supports 'omit-nonmale-y'.
* 'oxford': Oxford-format .gen + .sample.
When the 'bgz' modifier is
present, the .gen file is block-gzipped.
* 'ped': PLINK 1 sample-major (.ped + .map), loadable with --file. *
'compound-genotypes': Same as 'ped', except that the space between each
pair of same-variant allele codes is removed.
* 'structure': Structure-format. * 'transpose': PLINK 1 variant-major (.tped +
.tfam), loadable with
--tfile.
* 'vcf',
: VCF (default version 4.3). If PAR1 and PAR2 are present,
'vcf-4.2',
they are automatically merged with chrX, with proper
'bcf', handling of chromosome codes and male ploidy.
'bcf-4.2'
When the 'bgz' modifier is present, the VCF file is block-gzipped. (This always
happens with BCF output.) The 'id-paste' modifier controls which .psam columns are
used to construct sample IDs (choices are maybefid, fid, iid, maybesid, and sid;
default is maybefid,iid,maybesid), while the 'id-delim' modifier sets the character
between the ID pieces (default '_'). Genotypes are always exported. If you want
to export a sites-only VCF instead, see --make-pgen/--make-just-pvar's 'vcfheader'
column set. Dosages are not exported unless the 'vcf-dosage=' modifier is present.
The following five dosage export modes are supported: 'GP': genotype posterior
probabilities (v4.3 only). 'DS': Minimac3-style dosages, omitted for hardcalls.
'DS-force': Minimac3-style dosages, never omit. 'HDS': Minimac3-style phased
dosages, omitted for hardcalls
and unphased calls.
Also includes 'DS' output.
'HDS-force': Always report DS and HDS.
In addition, * The '12' modifier causes alt1 alleles to be coded as '1' and ref
alleles
to be coded as '2', while '01' maps alt1 -> 0 and ref -> 1.
* The 'spaces' modifier makes the output space-delimited instead of
tab-delimited, whenever both are permitted.
* For biallelic formats where it's unspecified whether the reference/major
allele should appear first or second, --export defaults to second for compatibility
with PLINK 1.9. Use 'ref-first' to change this. (Note that this doesn't apply to
the 'A', 'AD', and 'A-transpose' formats; use --export-allele to control which
alleles are counted there.)
--freq ['zs'] ['counts'] ['cols='<column set descriptor>] ['bins-only']
['refbins='<comma-separated bin boundaries> | 'refbins-file='<file>]
['alt1bins='<comma-separated bin boundaries> | 'alt1bins-file='<file>]
Empirical allele frequency report.
By default, only founders are
considered.
Dosages are taken into account (e.g. heterozygous haploid
calls count as 0.5). Supported column sets are:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. reffreq: Reference allele frequency/dosage.
alt1freq: Alt1 frequency/dosage. altfreq: Comma-separated frequencies/dosages for
all alternate alleles. freq: Similar to altfreq, except ref is also included at
the start. eq: Comma-separated <allele>=<freq> for all present alleles. (If no
alleles are present, the column contains a single '.'.)
eqz: Same as eq, except zero-counts are included. alteq/alteqz: Same as eq/eqz,
except reference allele is omitted. numeq: 0=<freq>,1=<freq>, etc. Zero-counts
are omitted. altnumeq: Same as numeq, except reference allele is omitted. machr2:
Unphased MaCH imputation quality metric. minimac3r2: Phased Minimac3 imputation
quality. nobs: Number of allele observations.
The default is chrom,ref,alt,altfreq,nobs. Additional .afreq.{ref,alt1}.bins (or
.acount.{ref,alt1}.bins with 'counts') file(s) are generated when
'refbins='/'refbins-file=' or 'alt1bins='/'alt1bins-file=' is present; these report
the total number of frequencies or counts in each left-closed, right-open interval.
(If you only want these histogram(s), and not the main report, add 'bins-only'.)
--geno-counts ['zs'] ['cols='<column set descriptor>]
Variant-based hardcall genotype count report (considering both alleles
simultaneously in the diploid case). Nonfounders are now included; use
--keep-founders if this is a problem. Heterozygous haploid calls are treated as
missing. Supported column sets are:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. homref: Homozygous-ref count. refalt1:
Heterozygous ref-alt1 count. refalt: Comma-separated het ref-altx counts.
homalt1: Homozygous-alt1 count. altxy: Comma-separated altx-alty counts, in
(1/1)-(1/2)-(2/2)-(1/3)-...
order.
xy: Similar to altxy, except the reference allele is treated as alt0,
and the sequence starts (0/0)-(0/1)-(1/1)-(0/2)-...
hapref: Haploid-ref count. hapalt1: Haploid-alt1 count. hapalt: Comma-separated
haploid-altx counts. hap: Similar to hapalts, except ref is also included at the
start. numeq: 0/0=<hom ref ct>,0/1=<het ref-alt1>,1/1=<hom alt1>,...,0=<hap ref>
etc. Zero-counts are omitted. (If all genotypes are missing, the
column contains a single '.'.)
missing: Number of missing genotypes. nobs: Number of (nonmissing) genotype
observations.
The default is chrom,ref,alt,homref,refalt,altxy,hapref,hapalt,missing.
--sample-counts ['zs'] ['cols='<column set descriptor>]
Sample-based hardcall genotype count report. * Unknown-sex samples are treated as
female. * Heterozygous haploid calls (MT included) are treated as missing. * As
with other PLINK 2 commands, SNPs that have not been left-normalized
are counted as non-SNP non-symbolic.
(Use e.g. --normalize when that's a
problem.)
* Supported column sets are:
maybefid: FID, if that column was present in the input. fid: Force FID column to
be written even when absent in the input. (IID is always present, and positioned
here.) maybesid: SID, if that column was present in the input. sid: Force SID
column to be written even when absent in the input. sex: '1' = male, '2' = female,
'NA' = missing. hom: Homozygous genotype count. homref: Homozygous-ref genotype
count. homalt: Homozygous-alt genotype count. homaltsnp: Homozygous-alt SNP
count. het: Heterozygous genotype count. refalt: Heterozygous ref-altx genotype
count. het2alt: Heterozygous altx-alty genotype count. hetsnp: Heterozygous SNP
count. dipts: Diploid SNP transition count. ts: SNP transition count (excluding
chrY for females). diptv: Diploid SNP transversion count. tv: SNP transversion
count. dipnonsnpsymb: Diploid non-SNP, non-symbolic count. nonsnpsymb: Non-SNP,
non-symbolic count. symbolic: Symbolic variant count. nonsnp: Non-SNP count.
dipsingle: Number of singletons relative to this dataset, across just
diploid calls.
(Note that if the ALT allele in a chrX
biallelic variant appears in exactly one female and one male, that counts as a
singleton for just the female.)
single: Number of singletons relative to this dataset. haprefwfemaley: Haploid-ref
count, counting chrY for everyone. hapref: Haploid-ref count, excluding chrY for
females. hapaltwfemaley: Haploid-alt count, counting chrY for everyone. hapalt:
Haploid-alt count, excluding chrY for females. missingwfemaley: Missing call
count, counting chrY for everyone. missing: Missing call count, excluding chrY for
females.
The default is maybefid,maybesid,homref,homaltsnp,hetsnp,dipts,diptv,
dipnonsnpsymb,dipsingle,haprefwfemaley,hapaltwfemaley,missingwfemaley.
* The 'hetsnp', 'dipts'/'ts'/'diptv'/'tv', 'dipnonsnpsymb'/'nonsnpsymb',
'symbolic', and 'nonsnp' columns count each ALT allele in a heterozygous altx-alty
call separately, since they can be of different subtypes. (I.e. if they are of the
same subtype, the corresponding count is incremented by 2.) As a consequence,
these columns are unaffected by variant split/join.
--missing ['zs'] [{sample-only | variant-only}]
['scols='<column set descriptor>] ['vcols='<column set descriptor>]
Generate sample- and variant-based missing data reports (or just one report if
'sample-only'/'variant-only' is specified). As of alpha 2, mixed MT hardcalls
appear in the heterozygous haploid stats. Supported column sets in the
sample-based report are:
maybefid: FID, if that column was present in the input. fid: Force FID column to
be written even when absent in the input. (IID is always present, and positioned
here.) maybesid: SID, if that column was present in the input. sid: Force SID
column to be written even when absent in the input. misspheno1: First active
phenotype missing (Y/N)? Always 'Y' if no
phenotypes are loaded.
missphenos: A Y/N column for each loaded phenotype.
(Can be combined
with misspheno1 to force at least one such column.)
nmissdosage: Number of missing dosages. nmiss: Number of missing hardcalls, not
counting het haploids. nmisshh: Number of missing hardcalls, counting het
haploids. hethap: Number of heterozygous haploid hardcalls. nobs: Denominator
(male count on chrY, otherwise total sample count). fmissdosage: Missing dosage
rate. fmiss: Missing hardcall rate, not counting het haploids. fmisshh: Missing
hardcall rate, counting het haploids.
The default is maybefid,maybesid,missphenos,nmiss,nobs,fmiss. Supported column
sets in the variant-based report are:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. nmissdosage: Number of missing dosages.
nmiss: Number of missing hardcalls, not counting het haploids. nmisshh: Number of
missing hardcalls, counting het haploids. hethap: Number of heterozygous haploid
calls. nobs: Number of potentially valid calls. fmissdosage: Missing dosage rate.
fmiss: Missing hardcall rate, not counting het haploids. fmisshh: Missing hardcall
rate, counting het haploids. fhethap: Heterozygous haploid rate.
The default is chrom,nmiss,nobs,fmiss.
--hardy ['zs'] ['midp'] ['redundant'] ['cols='<column set descriptor>]
Hardy-Weinberg exact test p-value report(s). * By default, only founders are
considered; change this with --nonfounders. * chrX is now omitted from the main
<output prefix>.hardy report. Instead,
(if present) it gets its own <output prefix>.hardy.x report based on the method
described in Graffelman J, Weir BS (2016) Hardy-Weinberg equilibrium and the X
chromosome.
* For variants with k alleles where k>2, k separate 'biallelic' tests are
performed, each reported on its own line.
However, biallelic variants
are normally reported on a single line, since the counts/frequencies would be
mirror-images and the p-values would be the same. You can add the 'redundant'
modifier to force biallelic variant results to be reported on two lines for parsing
convenience.
* There is currently no special handling of case/control phenotypes. Supported
column sets are:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. (A1 is always present, and positioned here.)
ax: Non-A1 allele(s), comma-separated. gcounts: Hom-A1 count, total number of
het-A1 calls, and total number of
nonmissing calls with no copies of A1.
On chrX, these are
followed by male A1 and male non-A1 counts.
gcount1col: gcounts values in a single comma-separated column. hetfreq: Observed
and expected het-A1 frequencies. sexaf: Female and male A1 observed allele
frequencies (chrX only). femalep: Female-only p/midp-value (chrX only). p:
Hardy-Weinberg equilibrium exact test p/midp-value.
The default is chrom,ax,gcounts,hetfreq,sexaf,p.
--indep-pairwise <window size>['kb'] [step size (variant ct)]
<unphased-hardcall-r^2 threshold>
Generate a list of variants in approximate linkage equilibrium. * For multiallelic
variants, major allele counts are used in the r^2
computation.
* With the 'kb' modifier, the window size is in kilobase instead of variant
count units.
(Pre-'kb' space is optional, i.e.
"--indep-pairwise 500 kb 0.5" and "--indep-pairwise 500kb 0.5" have the same
effect.)
* The step size now defaults to 1 if it's unspecified, and *must* be 1 if
the window is in kilobase units.
* Note that you need to rerun PLINK using --extract or --exclude on the
.prune.in/.prune.out file to apply the list to another computation... and as with
other applications of --extract/--exclude, duplicate variant IDs are a problem.
--indep-pairwise still runs to completion for now when duplicate variant IDs are
present, but that will become an error in alpha 3.
--ld <variant ID> <variant ID> ['dosage'] ['hwe-midp']
This displays diplotype frequencies, r^2, and D' for a single pair of variants. *
For multiallelic variants, major allele counts/dosages are used. * Phase
information is used when both variants are on the same chromosome. * When there is
at least one sample with unphased het calls for both
variants, diplotype frequencies are estimated using the Hill equation. If there
are multiple biologically possible local maxima, all are displayed, along with HWE
exact test statistics.
* By default, only hardcalls are considered.
Add the 'dosage' modifier if
you want dosages to be taken into account.
(In the diploid case, an
unphased dosage of x is interpreted as P(0/0) = 1 - x, P(0/1) = x when x is in
0..1.)
--sample-diff ['id-delim='<char>] ['dosage' | 'dosage='<tolerance>]
['include-missing'] [{pairwise | counts-only}] ['fname-id-delim='<c>] ['zs']
['cols='<column set descriptor>] ['counts-cols='<column set descriptor>] {base= |
ids=}<sample ID> [other sample ID(s)...]
--sample-diff ['id-delim='<char>] ['dosage' | 'dosage='<tolerance>]
['include-missing'] [{pairwise | counts-only}] ['fname-id-delim='<c>] ['zs']
['cols='<column set descriptor>] ['counts-cols='<column set descriptor>]
file=<ID-pair file>
(alias: --sdiff) Report discordances and discordance-counts between pairs of
samples. If chrX or chrY is present, sex must be defined and consistent. * There
are three ways to specify which sample pairs to compare. To
compare a single baseline sample against some others, start the (space-delimited)
sample ID list with 'base='. To perform an all-vs.-all comparison, start it with
'ids=' instead. To compare sample pairs listed in a file, use 'file='. Note that
'base='/'ids='/'file=' must be positioned after all modifiers.
* Sample IDs are interpreted as if they were in a VCF header line, with
'id-delim=' having the usual effect.
* By default, comparisons are based on hardcalls.
Use 'dosage' to compare
dosages instead; you can combine this with a tolerance in [0, 0.5).
* By default, if one genotype is missing and the other isn't, that doesn't
count as a difference; this can be changed with 'include-missing'.
* By default, a single main report is written to
<output prefix>[.<base ID>].sdiff.
To write separate pairwise
<output prefix>.<ID1>.<ID2>.sdiff reports for each compared ID pair, add the
'pairwise' modifier. To omit the main report, add the 'counts-only' modifier.
(Note that, if you're only interested in nonmissing autosomal biallelic hardcalls,
--make-king-table provides a more efficient way to compute just counts.)
* By default, if an output filename has a multipart sample ID, the parts
will be delimited by '_'; use 'fname-id-delim=' to change this.
Supported main-report column sets are:
chrom: Chromosome ID. pos: Base-pair coordinate. (Variant ID is always present,
and positioned here.) ref: Reference allele. alt: All alternate alleles,
comma-separated. maybefid: FID1/FID2, if that column was in the input. Requires
'id'. fid: Force FID1/FID2 even when FID was absent in the input. id: IID1/IID2.
maybesid: SID1/SID2, if that column was in the input. Requires 'id'. sid: Force
SID1/SID2 even when SID was absent in the input. geno: Unphased GT or DS for the
two samples.
The default is usually chrom,pos,ref,alt,maybefid,id,maybesid,geno; the sample IDs
are removed from the default in 'pairwise' mode. Supported
discordance-count-summary column sets are:
maybefid: FID1/FID2, if that column was in the input. fid: Force FID1/FID2 even
when FID was absent in the input. (IID1/IID2 are always present.) maybesid:
SID1/SID2, if that column was in the input. sid: Force SID1/SID2 even when SID was
absent in the input. nobs: Number of variants considered. This includes variants
where one or
both variants are missing iff 'include-missing' was specified.
nobsibs: ibs0+ibs1+ibs2. ibs0: Number of diploid variants with no common hardcall
alleles. ibs1: Number of diploid variants with exactly 1 common hardcall allele.
ibs2: Number of diploid variants with both hardcall alleles matching. halfmiss:
Number of variants with exactly 1 missing genotype/dosage.
Ignored without 'include-missing'.
diff: Total number of differences.
The default is maybefid,maybesid,nobs,halfmiss,diff.
--make-king [{square | square0 | triangle}] [{zs | bin | bin4}]
KING-robust kinship estimator, described by Manichaikul A, Mychaleckyj JC, Rich SS,
Daly K, Sale M, Chen WM (2010) Robust relationship inference in genome-wide
association studies. By default, this writes a lower-triangular tab-delimited
table of kinship coefficients to <output prefix>.king, and a list of the
corresponding sample IDs to <output prefix>.king.id. The first row of the .king
file contains a single <genome 1-genome 2> kinship coefficient, the second row has
the <genome 1-genome 3> and <genome 2-genome 3> kinship values in that order, etc.
* Only autosomes are currently considered. * Pedigree information is currently
ignored; the between-family estimator
is used for all pairs.
* For multiallelic variants, REF allele counts are used. * If the 'square' or
'square0' modifier is present, a square matrix is
written instead; 'square0' fills the upper right triangle with zeroes.
* If the 'zs' modifier is present, the .king file is Zstd-compressed. * If the
'bin' modifier is present, a binary (square) matrix of
double-precision floating point values, suitable for loading from R, is instead
written to <output prefix>.king.bin. ('bin4' specifies single-precision numbers
instead.) This can be combined with 'square0' if you still want the upper right
zeroed out, or 'triangle' if you don't want to pad the upper right at all.
* The computation can be subdivided with --parallel.
--make-king-table ['zs'] ['counts'] ['rel-check'] ['cols='<col set descrip.>]
Similar to --make-king, except results are reported in KING's original .kin0 text
table format (with minor changes, e.g. row order is more friendly to incremental
addition of samples), --king-table-filter can be used to restrict the report to
high kinship values, and the 'rel-check' modifier can be used to restrict to
same-FID pairs. Supported column sets are:
maybefid: FID1/FID2, if that column was in the input.
Requires 'id'.
fid: Force FID1/FID2 even when FID was absent in the input. id: IID1/IID2.
maybesid: SID1/SID2, if that column was in the input. Requires 'id'. sid: Force
SID1/SID2 even when SID was absent in the input. nsnp: Number of variants
considered (autosomal, neither call missing). hethet: Proportion/count of
considered call pairs which are het-het. ibs0: Proportion/count of considered call
pairs which are opposite homs. ibs1: HET1_HOM2 and HET2_HOM1 proportions/counts.
kinship: KING-robust between-family kinship estimator.
The default is maybefid,id,maybesid,nsnp,hethet,ibs0,kinship. hethet/ibs0/ibs1
values are proportions unless the 'counts' modifier is present. If id is omitted,
a .kin0.id file is also written.
--make-rel ['cov'] ['meanimpute'] [{square | square0 | triangle}]
[{zs | bin | bin4}]
Write a lower-triangular variance-standardized relationship matrix to <output
prefix>.rel, and corresponding IDs to <output prefix>.rel.id. * This computation
assumes that variants do not have very low MAF, or
deviate greatly from Hardy-Weinberg equilibrium.
* Also, it's usually best to perform this calculation on a variant set in
approximate linkage equilibrium.
* The 'cov' modifier replaces the variance-standardization step with basic
mean-centering, causing a covariance matrix to be calculated instead.
* The computation can be subdivided with --parallel.
--make-grm-list ['cov'] ['meanimpute'] ['zs'] [{id-header | iid-only}]
--make-grm-bin ['cov'] ['meanimpute'] [{id-header | iid-only}]
--make-grm-list causes the relationships to be written to GCTA's original
list format, which describes one pair per line, while --make-grm-bin writes them in
GCTA 1.1+'s single-precision triangular binary format. Note that these formats
explicitly report the number of valid observations (where neither sample has a
missing call) for each pair, which is useful input for some scripts.
--pca [count] [{approx | meanimpute}] ['scols='<col set descriptor>]
--pca [{allele-wts | biallelic-var-wts}] [count] [{approx | meanimpute}]
['vzs'] ['scols='<col set descriptor>] ['vcols='<col set descriptor>]
Extracts top principal components from the variance-standardized relationship
matrix. * It is usually best to perform this calculation on a variant set in
approximate linkage equilibrium, with no very-low-MAF variants.
* By default, 10 PCs are extracted; you can adjust this by passing a
numeric argument.
(Note that 10 is lower than the PLINK 1.9 default of
20; this is due to the randomized algorithm's memory footprint growing
quadratically w.r.t. the PC count.)
* The 'approx' modifier causes the standard deterministic computation to be
replaced with the randomized algorithm originally implemented for Galinsky KJ,
Bhatia G, Loh PR, Georgiev S, Mukherjee S, Patterson NJ, Price AL (2016) Fast
Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and
East Asia. This can be a good idea when you have >5k samples, and is almost
required with >50k.
* The randomized algorithm always uses mean imputation for missing genotype
calls. For comparison purposes, you can use the 'meanimpute' modifier to
request this behavior for the standard computation.
* 'scols=' can be used to customize how sample IDs appear in the .eigenvec
file. (maybefid, fid, maybesid, and sid supported; default is
maybefid,maybesid.)
* The 'allele-wts' modifier requests an additional one-line-per-allele
.eigenvec.allele file with PCs expressed as allele weights instead of sample
weights. When it's present, 'vzs' causes the .eigenvec.allele file to be
Zstd-compressed. 'vcols=' can be used to customize the report columns; supported
column sets are:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. (A1 is always present, and positioned here.)
ax: Non-A1 alleles, comma-separated. (PCs are always present, and positioned
here.)
Default is chrom,ref,alt.
* For datasets with no multiallelic variants, the 'biallelic-var-wts'
modifier requests the old .eigenvec.var format, which only reports weights for
major alleles. (These weights are 2x the corresponding .eigenvec.allele weights.)
Supported column sets are:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. maj: Major allele. nonmaj: Minor allele.
(PCs are always present, and positioned here. Signs are w.r.t. the major, not
necessarily reference, allele.)
Default is chrom,maj,nonmaj.
--king-cutoff [.king.bin + .king.id fileset prefix] <threshold>
Exclude one member of each pair of samples with KING-robust kinship greater than
the given threshold. Remaining/excluded sample IDs are written to <output
prefix>.king.cutoff.in.id + .king.cutoff.out.id. If present, the .king.bin file
must be triangular (either precision is ok).
--write-covar ['cols='<column set descriptor>]
If covariates are defined, an updated version (with all filters applied) is
automatically written to <output prefix>.cov whenever --make-pgen,
--make-just-psam, --export, or a similar command is present. However, if you do
not wish to simultaneously generate a new sample file, you can use --write-covar to
just produce a pruned covariate file. Supported column sets are:
maybefid: FID, if that column was in the input. fid: Force FID column to be
written even when absent in the input. maybesid: SID, if that column was in the
input. sid: Force SID column to be written even when absent in the input.
maybeparents: Father/mother IIDs ('0' = missing), if columns in input. parents:
Force PAT/MAT columns to be written even when absent in input. sex: '1' = male,
'2' = female, 'NA' = missing. pheno1: First active phenotype. If none, all column
entries are set to
the --output-missing-phenotype string.
phenos: All active phenotypes, if any.
(Can be combined with pheno1 to
force at least one phenotype column to be written.)
(Covariates are always present, and positioned here.)
The default is maybefid,maybesid.
--write-samples
Report IDs of all samples which pass your filters/inclusion thresholds.
--write-snplist ['zs'] ['allow-dups']
List all variants which pass your filters/inclusion thresholds.
Unless the
'allow-dups' modifier is provided, this now errors out when duplicate variant ID(s)
remain.
--glm ['zs'] ['omit-ref'] [{sex | no-x-sex}] ['log10'] ['pheno-ids']
[{genotypic | hethom | dominant | recessive}] ['interaction'] ['skip']
['hide-covar'] [{no-firth | firth-fallback | firth}] ['intercept'] ['cols='<col set
desc>] ['local-covar='<file>] ['local-psam='<file>] ['local-pos-cols='<key col #s>
| 'local-pvar='<file>] ['local-haps'] ['local-omit-last' |
'local-cats[0]='<category ct>] ['allow-no-covars']
Basic association analysis on quantitative and/or case/control phenotypes. For
each variant, a linear (for quantitative traits) or logistic (for case/control)
regression is run with the phenotype as the dependent variable, and nonmajor allele
dosage(s) and a constant-1 column as predictors. * There is usually an additive
effect line for every nonmajor allele, and
no such line for the major allele.
To omit REF alleles instead of major
alleles, add the 'omit-ref' modifier.
(When performing interaction
testing, this tends to cause the multicollinearity check to fail for
low-ref-frequency variants.)
* By default, sex (male = 1, female = 2; note that this is a change from
PLINK 1.x) is automatically added as a predictor for X chromosome variants, and no
others. The 'sex' modifier causes it to be added everywhere (except chrY), while
'no-x-sex' excludes it entirely.
* The 'log10' modifier causes p-values to be reported in -log10(p) form. *
'pheno-ids' causes the samples used in each set of regressions to be
written to an .id file.
(When the samples differ on chrX or chrY, .x.id
and/or .y.id files are also written.)
* The 'genotypic' modifier adds an additive effect/dominance deviation 2df
joint test (0-2 and 0..1..0 coding), while 'hethom' uses 0..0..1 and 0..1..0 coding
instead.
* 'dominant' and 'recessive' specify a model assuming full dominance or
recessiveness, respectively, for the ref allele.
I.e. the genotype
column is recoded as 0..1..1 or 0..0..1, respectively.
* 'interaction' adds genotype x covariate interactions to the model.
Note
that this tends to produce 'NA' results (due to the multicollinearity check) when
the reference allele is 'wrong'; --maj-ref can be used to enable analysis of those
variants.
* Additional predictors can be added with --covar.
By default, association
statistics are reported for all nonconstant predictors; 'hide-covar' suppresses
covariate-only results, while 'intercept' causes intercepts to be reported. Since
running --glm without at least e.g. principal component covariates is usually an
analytical mistake, the 'allow-no-covars' modifier is now required when you're
intentionally running --glm without a covariate file.
* By default, if the current phenotype and covariates are such that every
regression on a chromosome will fail, PLINK 2 errors out.
To just skip
the phenotype or chromosome instead, add the 'skip' modifier.
* There are now three regression modes for case/control phenotypes:
* 'no-firth' requests PLINK 1.x's behavior, where a NA result is reported
when basic logistic regression fails to converge.
* 'firth-fallback' requests logistic regression, followed by Firth
regression whenever the logistic regression fails to converge.
This is
now the default.
* 'firth' requests Firth regression all the time.
* To add covariates which are not constant across all variants, add the
'local-covar=' and 'local-psam=' modifiers, use full filenames for each, and use
either 'local-pvar=' or 'local-pos-cols=' to provide variant ID or position
information. Normally, the local-covar file should have c * n real-valued columns,
where the first c columns correspond to the first sample in the local-psam file,
columns (c+1) to 2c correspond to the second sample, etc.; and the mth line
corresponds to the mth nonheader line of the local-pvar file when there is one.
(Variants outside of the local-pvar file are excluded from the regression.) The
local covariates are assigned the names LOCAL1, LOCAL2, etc.; to exclude the last
local covariate from the regression (necessary if they are e.g. local ancestry
coefficients which sum to 1), add 'local-omit-last'. Alternatively, with
'local-cats='<k>, the local-covar file is expected to have n columns with
integer-valued entries in [1, k]. (This range is [0, k-1] with 'local-cats0='.)
These category assignments are expanded into (k-1) local covariates in the usual
manner. When position information is in the local-covar file, this should be
indicated by 'local-pos-cols='<number of header rows>,<chrom col #>,<pos start col
#>,<first covariate col #>. 'local-haps' indicates that there's one column or
column-group per haplotype instead of per sample; they are averaged by --glm.
The main report supports the following column sets:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. (A1 is always present, and positioned here.
For multiallelic variants, this column may contain multiple comma-separated alleles
when the result doesn't depend on which allele is A1.) ax: Non-A1 alleles,
comma-separated. a1count: A1 allele count (can be decimal with dosage data).
totallele: Allele observation count (can be higher than --freq value, due
to inclusion of het haploids and chrX model).
a1countcc: A1 count in cases, then controls (case/control only). totallelecc: Case
and control allele observation counts. gcountcc: Genotype hardcall counts
(neither-A1, het-A1, A1-A1) in cases,
then controls (case/control only).
a1freq: A1 allele frequency. a1freqcc: A1 frequency in cases, then controls
(case/control only). machr2: Unphased MaCH imputation quality (frequently labeled
'INFO'). firth: Reports whether Firth regression was used (firth-fallback only).
test: Test identifier. (Required unless only one test is run.) nobs: Number of
samples in the regression. beta: Regression coefficient (for A1 if additive test).
orbeta: Odds ratio for case/control, beta for quantitative traits.
(Ignored if 'beta' column set included.)
se: Standard error of beta. ci: Bounds of symmetric approximate confidence
interval (requires --ci). tz: T-statistic for linear regression, Wald Z-score for
logistic/Firth. p: Asymptotic p-value (or -log10(p)) for T/Z-statistic. err:
Error code for NA results.
The default is chrom,pos,ref,alt,firth,test,nobs,orbeta,se,ci,tz,p,err.
--score <filename> [i] [j] [k] [{header | header-read}]
[{center | variance-standardize | dominant | recessive}] ['no-mean-imputation']
['se'] ['zs'] ['ignore-dup-ids'] [{list-variants | list-variants-zs}] ['cols='<col
set descriptor>]
Apply linear scoring system(s) to each sample. The input file should have one line
per scored (variant, allele) pair. Variant IDs are read from column #i and allele
codes are read from column #j, where i defaults to 1 and j defaults to i+1. * By
default, a single column of input coefficients is read from column #k,
where k defaults to j+1.
(--score-col-nums can be used to specify
multiple columns.)
* 'header-read' causes the first line of the input file to be treated as a
header line containing score names.
Otherwise, score(s) are assigned the
names 'SCORE1', 'SCORE2', etc.; and 'header' just causes the first line to be
entirely ignored.
* By default, copies of unnamed alleles contribute zero to score, while
missing genotypes contribute an amount proportional to the loaded (via --read-freq)
or imputed allele frequency. To throw out missing observations instead (decreasing
the denominator in the final average when this happens), use the
'no-mean-imputation' modifier.
* You can use the 'center' modifier to shift all genotypes to mean zero, or
'variance-standardize' to linearly transform the genotypes to mean-0, variance-1.
* The 'dominant' modifier causes dosages greater than 1 to be treated as 1,
while 'recessive' uses max(dosage - 1, 0) on diploid chromosomes. ('dominant',
'recessive', and 'variance-standardize' cannot be used with chrX.)
* The 'se' modifier causes the input coefficients to be treated as
independent standard errors; in this case, standard errors for the score
average/sum are reported. (Note that this will systematically underestimate
standard errors when scored variants are in LD.)
* By default, --score errors out if a variant ID in the input file appears
multiple times in the main dataset.
Use the 'ignore-dup-ids' modifier to
skip them instead (a warning is still printed if such variants are present).
* The 'list-variants[-zs]' modifier causes variant IDs used for scoring to
be written to <output prefix>.sscore.vars[.zst].
The main report supports the following column sets:
maybefid: FID, if that column was in the input. fid: Force FID column to be
written even when absent in the input. (IID is always present, and positioned
here.) maybesid: SID, if that column was in the input. sid: Force SID column to
be written even when absent in the input. pheno1: First active phenotype. phenos:
All active phenotypes, if any. nallele: Number of nonmissing alleles. denom:
Denominator of score average (equal to nallele value when
'no-mean-imputation' specified).
dosagesum: Sum of named allele dosages. scoreavgs: Score averages. scoresums:
Score sums.
The default is maybefid,maybesid,phenos,nallele,dosagesum,scoreavgs. For more
sophisticated polygenic risk scoring, we recommend looking at the LDpred
(https://github.com/bvilhjal/ldpred ) and PRSice-2 (https://www.prsice.info/ )
software packages.
--variant-score <filename> ['zs'] ['bin' | 'cols='<col set descriptor>]
(alias: --vscore) Apply linear scoring system(s) to each variant. Each reported
variant score is the dot product of a sample-weight vector with the
total-ALT-dosage vector, with MAF-based mean imputation applied to missing dosages.
Input file format: one line per sample, each starting with an ID and followed by
scoring weight(s); it can also have a header line with the sample ID representation
and the score name(s). The usual .vscore text report supports the following column
sets:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. altfreq: ALT allele frequency used for
mean-imputation. nmiss: Number of missing (and thus mean-imputed) dosages. nobs:
Number of (nonmissing) sample observations. (Variant scores are always present,
and positioned here.)
Default is chrom,pos,ref,alt. If binary output is requested instead, the main
.vscore.bin matrix contains double-precision floating-point values, column (score)
ID(s) are saved to <output prefix>.vscore.cols, and variant IDs are saved to
<output prefix>.vscore.vars[.zst].
--adjust-file <filename> ['zs'] ['gc'] ['cols='<column set descriptor>]
['log10'] ['input-log10'] ['test='<test name, case-sensitive>]
Given a file with unfiltered association test results, report some basic
multiple-testing corrections, sorted in increasing-p-value order. * 'gc' causes
genomic-controlled p-values to be used in the formulas.
(This tends to be overly conservative.
We note that LD Score regression
usually does a better job of calibrating lambda; see Lee JJ, McGue M, Iacono WG,
Chow CC (2018) The accuracy of LD Score regression as an estimator of confounding
and genetic correlations in genome-wide association studies.)
* 'log10' causes negative base 10 logs of p-values to be reported, instead
of raw p-values.
'input-log10' specifies that the input file contains
-log10(p) values.
* If the input file contains multiple tests per variant which are
distinguished by a 'TEST' column (true for --linear/--logistic/--glm), you must use
'test=' to select the test to process.
The following column sets are supported:
chrom: Chromosome ID. pos: Base-pair coordinate. (ID is always present, and
positioned here.) ref: Reference allele. alt1: Alternate allele 1. alt: All
alternate alleles, comma-separated. a1: Tested allele. (Omitted if missing from
input file.) unadj: Unadjusted p-value. gc: Devlin & Roeder (1999) genomic
control corrected p-value (additive
models only).
qq: P-value quantile. bonf: Bonferroni correction. holm: Holm-Bonferroni (1979)
adjusted p-value. sidakss: Sidak single-step adjusted p-value. sidaksd: Sidak
step-down adjusted p-value. fdrbh: Benjamini & Hochberg (1995) step-up false
discovery control. fdrby: Benjamini & Yekutieli (2001) step-up false discovery
control.
Default set is chrom,a1,unadj,gc,bonf,holm,sidakss,sidaksd,fdrbh,fdrby.
--genotyping-rate ['dosage']
Report genotyping rate in log (this was automatic in PLINK 1.x).
--pgen-info
Reports basic information about a .pgen file.
--validate
Validates all variant records in a .pgen file.
--zst-decompress <.zst file> [output filename]
(alias: --zd) Decompress a Zstd-compressed file. If no output filename is
specified, the file is decompressed to standard output. This cannot be used with
any other flags, and does not cause a log file to be generated.
The following other flags are supported.
--script <fname>
: Include command-line options from file.
--rerun [log]
: Rerun commands in log (default 'plink2.log').
--version
: Display only version number before exiting.
--silent
: Suppress regular output to console. (Error-output is not suppressed.)
--double-id
: Set both FIDs and IIDs to the VCF/.bgen sample ID.
--const-fid [ID]
: Set all FIDs to the given constant. If '0' (the default), no FID column is
created.
--id-delim [d]
: Normally parses single-delimiter sample IDs as <FID><d><IID>, and
double-delimiter IDs as <FID><d><IID><d><SID>; default delimiter is '_'.
--id-delim can no longer be used with --double-id/--const-fid; it will error out if
any ID lacks the delimiter.
--idspace-to <c>
: Convert spaces in VCF/.bgen sample IDs to the given character.
--iid-sid
: Make --id-delim and --sample-diff interpret two-token sample IDs as IID-SID
instead of FID-IID.
--vcf-require-gt
: Skip variants with no GT field.
--vcf-min-gq <val>
: No-call genotypes when GQ is present and below the threshold.
--vcf-max-dp <val>
: No-call genotypes when DP is present and above/below
--vcf-min-dp <val>
the threshold.
--vcf-half-call <m> : Specify how '0/.' and similar VCF GT values should be
handled. The following four modes are supported: * 'error'/'e' (default) errors
out and reports line #. * 'haploid'/'h' treats them as haploid calls. *
'missing'/'m' treats them as missing. * 'reference'/'r' treats the missing value
as 0.
--oxford-single-chr <chr name>
: Specify single-chromosome .gen/.bgen file with no useful chromosome info inside.
--missing-code [string list]
: Comma-delimited list of missing phenotype
(alias: --missing_code)
values for Oxford-format import (default 'NA').
--hard-call-threshold <val>
: When importing dosage data, a hardcall is normally saved when the distance from
the nearest hardcall, defined as
0.5 * sum_i |x_i - round(x_i)|
(where the x_i's are 0..2 allele dosages), is not greater than 0.1. You can adjust
this threshold by providing a numeric argument to --hard-call-threshold. You can
also use this with --make-[b]pgen to alter the saved hardcalls while leaving the
dosages untouched, or --make-bed to tweak hardcall export.
--dosage-erase-threshold <val>
: --hard-call-threshold normally preserves the original dosages, and several PLINK
2 commands use them when they're available. Use --dosage-erase-threshold to make
PLINK 2 erase dosages and keep only hardcalls when distance-from-hardcall <= the
given level.
--import-dosage-certainty <val> : The PLINK 2 file format currently supports
a single dosage for each allele. Some other dosage file formats include a separate
probability for every possible genotype, e.g. {P(0/0)=0.2, P(0/1)=0.52,
P(1/1)=0.28}, a highly uncertain call that is nevertheless treated as a hardcall
under '--hard-call-threshold 0.1'. To make PLINK 2 treat a dosage as missing
whenever the largest probability is less than a threshold, use
--import-dosage-certainty.
--input-missing-genotype <c> : '.' is always interpreted as a missing
genotype code in input files. By default, '0' also is; you can change this second
missing code with --input-missing-genotype.
--allow-extra-chr
: Permit unrecognized chromosome codes (alias --aec).
--chr-set <autosome ct> ['no-x'] ['no-y'] ['no-xy'] ['no-mt'] :
Specify a nonhuman chromosome set.
The first parameter sets the number of
diploid autosome pairs if positive, or haploid chromosomes if negative. Given
diploid autosomes, the remaining modifiers indicate the absence of the named
non-autosomal chromosomes.
--cow/--dog/--horse/--mouse/--rice/--sheep : Shortcuts for those species.
--autosome-num <val>
: Alias for '--chr-set <value> no-y no-xy no-mt'.
--human
: Explicitly specify human chromosome set, and make output .pvar/VCF files include
a ##chrSet header line. (.pvar/VCF output files automatically include ##chrSet
when a nonhuman set is specified.)
--chr-override ['file'] : By default, if --chr-set/--autosome-num/--cow/etc.
conflicts with an input file ##chrSet header line, PLINK 2 will error out.
--chr-override with no argument causes the command line to take precedence;
'--chr-override file' defers to the file.
--var-min-qual <val>
: Skip variants with low/missing QUAL.
--var-filter [exception(s)...]
: Skip variants which have FILTER failures.
--extract-if-info <key> <op> <val> : Exclude variants which don't/do satisfy
--exclude-if-info <key> <op> <val>
a comparison predicate on an INFO key,
(aliases: --extract-if,
e.g.
--exclude-if)
--extract-if-info "VT == SNP"
Unless the operator is !=, the predicate
always evaluates to false when the key is missing.
--require-info <key(s)...>
: Exclude variants based on nonexistence
--require-no-info <key(s)...>
or existence of an INFO key. "<key>=." is treated as nonexistence.
--extract-col-cond <f> [valcol] [IDcol] [skip] :
--extract-col-cond-match <(sub)string(s)...>
--extract-col-cond-mismatch <(sub)string(s)...>
--extract-col-cond-substr
--extract-col-cond-min <min>
--extract-col-cond-max <max> :
Exclude all variants without a value-column entry satisfying a condition. * By
default, values are read from column 2 of the file, and variant IDs
are read from column 1.
* Three types of conditions are supported:
* When --extract-col-cond-match is specified without
--extract-col-cond-substr, the value is checked for equality with the
given strings, and kept iff one of them matches.
Similarly,
--extract-col-cond-mismatch without --extract-col-cond-substr causes
the variant to be kept iff the value matches none of the given strings.
* When --extract-col-cond-match and/or -mismatch are specified with
--extract-col-cond-substr, the variant is kept iff none of the
--extract-col-cond-mismatch substrings are contained in the value, and
either --extract-col-cond-match was unspecified or at least one of its substrings
is contained.
* Otherwise, the value is interpreted as a number, and the variant is
kept if the number is in [<min>, <max>] (default min=0, max=DBL_MAX).
--pheno ['iid-only'] <f> : Specify additional phenotype/covariate file.
Comma-delimited files with a header line are now permitted.
--pheno-name <name...>
: Only load the designated phenotype(s) from the --pheno (if one was specified) or
.psam (if no --pheno) file. Separate multiple names with spaces or commas, and use
dashes to designate ranges.
--pheno-col-nums <#...>
: Only load the phenotype(s) in the designated column number(s) from the --pheno
file.
--no-psam-pheno
: Ignore phenotype(s) in .psam/.fam file.
--strict-sid0
: By default, if there is no SID column in the .psam/.fam (or --update-ids) file,
but there is one in another input file (for e.g. --keep/--remove), the latter SID
column is ignored; sample IDs are considered matching as long as FID and IID are
equal (with missing FID treated as '0'). If you also want to require SID = '0' for
a sample ID match in this situation, add --strict-sid0.
--input-missing-phenotype <v> : Set nonzero number to treat as a missing
pheno/covar in input files (default -9).
--no-input-missing-phenotype
: Don't treat any nonzero number as a missing pheno/covar. ('NA'/'nan' are still
treated as missing.)
--1 : Expect case/control phenotypes in input files to be coded as 0 = control, 1 =
case, instead of the usual 0 = missing, 1 = ctrl, 2 = case. (Unlike PLINK 1.x,
this does not force all phenotypes to be interpreted as case/ctrl.)
--missing-catname <str>
: Set missing-categorical-phenotype string (case-sensitive, default 'NONE').
--covar ['iid-only'] <f> : Specify additional covariate file.
Comma-delimited files with a header line are now permitted.
--covar-name <name...>
: Only load the designated covariate(s) from the --covar (if one was specified),
--pheno (if no --covar), or .psam (if no --covar or --pheno) file.
--covar-col-nums <#...>
: Only load the covariate(s) in the designated column number(s) from the --covar
(if one was specified) or --pheno (if no --covar) file.
--within <f> [new pheno name] : Import a PLINK 1.x categorical phenotype.
(Phenotype name defaults to 'CATPHENO'.) * If any numeric values are present, ALL
values must be numeric.
In that case, 'C'
is added in front of all category names.
* 'NA' is treated as a missing value.
--mwithin <n>
: Load --within categories from column n+2.
--family [new pheno name]
: Create a categorical phenotype from FID. Restrictions on and handling of numeric
values are the same as for --within.
--family-missing-catname <nm> : Make --family treat the specified FID as
missing.
--keep <fname...>
: Exclude all samples not named in a file.
--remove <fname...>
: Exclude all samples named in a file.
--keep-fam <fn...>
: Exclude all families not named in a file.
--remove-fam <f...>
: Exclude all families named in a file.
--extract [{bed0 | bed1}] <f...> : Usually excludes all variants (not) named
--exclude [{bed0 | bed1}] <f...>
in the given file(s). When multiple files are named, they are concatenated. With
the 'bed0' or 'bed1' modifier, variants outside/inside the positional ranges in the
interval-BED file(s) are excluded instead. 'bed0' tells PLINK 2 to assume the
interval bounds follow the UCSC 0-based half-open convention, while 'bed1'
(equivalent to PLINK 1.9 'range') specifies 1-based fully-closed.
--extract-intersect [{bed0 | bed1}] <f...> : Just like --extract, except that
a variant must be in the intersection, rather than just the union, of the files to
remain.
--bed-border-bp <n>
: Stretch BED intervals by the given amount on each
--bed-border-kb <n>
side.
--keep-cats <filename>
: These can be used individually or in combination
--keep-cat-names <nm...>
to define a list of categories to keep; all samples not in one of the named
categories are excluded. Use spaces to separate category names for
--keep-cat-names. Use the --missing-catname value (default 'NONE') to refer to the
group of uncategorized samples.
--keep-cat-pheno <pheno> : If more than one categorical phenotype is loaded,
or you wish to filter on a categorical covariate, --keep-cat-pheno must be used to
specify which phenotype/covariate --keep-cats and --keep-cat-names apply to.
--remove-cats <filename> : Exclude all categories named in the file.
--remove-cat-names <...> : Exclude named categories.
--remove-cat-pheno <phe> : Specify pheno for --remove-cats/remove-cat-names.
--split-cat-pheno [{omit-most | omit-last}] ['covar-01']
[cat. pheno/covar name(s)...] :
Split n-category phenotype(s) into n (or n-1, with 'omit-most'/'omit-last') binary
phenotypes, with names of the form <orig. pheno name>=<cat. name>. (As a
consequence, affected phenotypes and categories are not permitted to contain the
'=' character.) * This happens after all sample filters. * If no phenotype or
covariate names are provided, all categorical
phenotypes (but not covariates) are processed.
* By default, generated covariates are coded as 1=false, 2=true.
To code
them as 0=false, 1=true instead, add the 'covar-01' modifier.
--loop-cats <pheno/covar>
: Run variant filters and subsequent operations on just the samples in the first
category; then just the samples in the second category; and so on, for all
categories in the named categorical phenotype.
--no-id-header ['iid-only'] : Don't include a header line in .id output
files. This normally forces two-column FID/IID output; add 'iid-only' to force
just single-column IID.
--variance-standardize [pheno/covar name(s)...]
--covar-variance-standardize [covar name(s)...] :
Linearly transform named covariates (and quantitative phenotypes, if
--variance-standardize) to mean-zero, variance 1. If no arguments are provided,
all possible phenotypes/covariates are affected. This is frequently necessary to
prevent multicollinearity when dealing with covariates where abs(mean) is much
larger than abs(standard deviation), such as year of birth.
--quantile-normalize [...]
: Force named covariates and quantitative
--pheno-quantile-normalize [...]
phenotypes to a N(0,1) distribution,
--covar-quantile-normalize [...]
preserving only the original rank orders.
--chr <chr(s)...>
: Exclude all variants not on the given chromosome(s). Valid choices for humans
are 0 (unplaced), 1-22, X, Y, XY, MT, PAR1, and PAR2. Separate multiple
chromosomes with spaces and/or commas, and use a dash (no adjacent spaces
permitted) to denote a range, e.g. '--chr 1-4, 22, par1, x, par2'.
--not-chr <...>
: Reverse of --chr (exclude variants on listed chromosomes).
--autosome
: Exclude all non-autosomal variants.
--autosome-par
: Exclude all non-autosomal variants, except those in a pseudo-autosomal region.
--snps-only ['just-acgt'] : Exclude non-SNP variants.
By default, SNP = all allele codes are single-character (so multiallelic variants
with a mix of SNPs and non-SNPs are excluded; split your variants first if that's a
problem). The 'just-acgt' modifier restricts SNP codes to
{A,C,G,T,a,c,g,t,<missing>}.
--from <var ID>
: Use ID(s) to specify a variant range to load. When used
--to <var ID> together, both variants must be on the same chromosome. (--snps can
be used to specify intervals which cross chromosome boundaries.)
--snp <var ID> : Specify a single variant to load.
--exclude-snp <ID> : Specify a single variant to exclude.
--window
<kbs> : With --snp/--exclude-snp, loads/excludes all variants within half the
specified kb distance of the named one.
--from-bp <pos>
: Use base-pair coordinates to define a variant range to
--to-bp
<pos> load.
--from-kb <pos>
* You must use these with --chr, specifying a single
--to-kb
<pos> chromosome.
--from-mb <pos>
* Decimals and negative numbers are permitted.
--to-mb
<pos> * The --to-bp(/-kb/-mb) position is no longer permitted to be smaller
than the --from-bp position.
--snps <var IDs...>
: Use IDs to specify variant range(s) to load or
--exclude-snps <...>
exclude. E.g. '--snps rs1111-rs2222, rs3333, rs4444'.
--force-intersect
: PLINK 2 normally errors out when multiple variant inclusion filters (--extract,
--extract-col-cond, --extract-intersect, --from/--to, --from-bp/--to-bp, --snp,
--snps) are specified. --force-intersect allows the run to proceed; the set
intersection will be taken.
--thin <p>
: Randomly remove variants, retaining each with prob. p.
--thin-count <n>
: Randomly remove variants until n of them remain.
--bp-space <bps>
: Remove variants so that each pair is no closer than the given bp distance.
--thin-indiv <p>
: Randomly remove samples, retaining with prob. p.
--thin-indiv-count <n> : Randomly remove samples until n of them remain.
--keep-col-match <f> <val(s)...> : Exclude all samples without a 3rd column
entry in the given file exactly matching one of the given strings. (Separate
multiple strings with spaces.)
--keep-col-match-name <col name> : Check column with given name instead.
--keep-col-match-num <n>
: Check nth column instead.
--geno [val] [{dosage | hh-missing}]
--mind [val] [{dosage | hh-missing}] :
Exclude variants (--geno) and/or samples (--mind) with missing call frequencies
greater than a threshold (default 0.1). (Note that the default threshold is only
applied if --geno/--mind is invoked without an argument; when --geno/--mind is not
invoked, no missing call frequency ceiling is enforced at all. Other
inclusion/exclusion default thresholds work the same way.) By default, when a
dosage is present but a hardcall is not, the genotype is treated as missing; add
the 'dosage' modifier to treat this case as nonmissing. Alternatively, you can use
'hh-missing' to also treat heterozygous haploid calls as missing.
--require-pheno [name(s)...] : Remove samples missing any of the named
--require-covar [name(s)...]
phenotype(s)/covariate(s). If no arguments are provided, all
phenotype(s)/covariate(s) must be present.
--maf [freq] [mode]
: Exclude variants with allele frequency lower than a
(alias: --min-af)
threshold (default 0.01). By default, the nonmajor allele frequency is used; the
other supported modes are 'nref' (non-reference), 'alt1', and 'minor' (least
frequent). bcftools freq:mode notation is permitted.
--max-maf <freq> [mode] : Exclude variants with MAF greater than the
(alias: --max-af)
threshold.
--mac <ct> [mode]
: Exclude variants with allele dosage lower than the
(alias: --min-ac)
given threshold.
--max-mac <ct> [mode]
: Exclude variants with allele dosage greater than
(alias: --max-ac)
the given threshold.
--maf-succ
: Rule of succession allele frequency estimation (used in EIGENSOFT). Given j
observations of one allele and k observations of the other for a biallelic variant,
infer allele frequencies of (j+1) / (j+k+2) and (k+1) / (j+k+2), rather than the
default j / (j+k) and k / (j+k). Note that this does not affect --freq's output.
--min-alleles <ct> : Exclude variants with fewer than the given # of alleles.
(When a variant has exactly one ALT allele, and it's a missing-code, it's excluded
by "--min-alleles 2".)
--max-alleles <ct> : Exclude variants with more than the given # of alleles.
--read-freq <file> : Load allele frequency estimates from the given --freq or
--geno-counts (or PLINK 1.9 --freqx) report, instead of imputing them from the
immediate dataset.
--hwe <p> ['midp'] ['keep-fewhet'] :
Exclude variants with Hardy-Weinberg equilibrium exact test p-values below a
threshold. * By default, only founders are considered. * chrX p-values are now
computed using Graffelman and Weir's method. * For variants with k alleles with
k>2, k separate 'biallelic' tests are
performed, and the variant is filtered out if any of them fail.
* With 'keep-fewhet', variants which fail the test in the too-few-hets
direction are not excluded.
On chrX, this uses the ratio between the
Graffelman/Weir p-value and the female-only p-value.
* There is currently no special handling of case/control phenotypes.
--mach-r2-filter [min] [max] : Exclude variants with MaCH imputation quality
metric less than min or greater than max (defaults 0.1 and 2.0). (Monomorphic
variants, with r2 = nan, are not excluded.) * This is NOT identical to the R2
metric
reported by Minimac3 0.1.13+; see below.
* If a single argument is provided, it is
treated as the minimum.
* The metric is not computed on chrX and MT.
--minimac3-r2-filter <min> [max] : Compute Minimac3 R2 values from scratch,
and exclude variants with R2 less than min or (if max is provided) greater than
max. * Note that this requires phased-dosage
data for all samples and variants;
otherwise this will systematically underestimate imputation quality, since unphased
hardcalls/dosages are treated as if they were maximally uncertain. (Use
--extract-if-info/--exclude-if-info to filter on precomputed Minimac3 R2 in a
VCF/.pvar INFO column.)
--keep-females
: Exclude male and unknown-sex samples.
--keep-males
: Exclude female and unknown-sex samples.
--keep-nosex
: Exclude all known-sex samples.
--remove-females
: Exclude female samples.
--remove-males
: Exclude male samples.
--remove-nosex
: Exclude unknown-sex samples.
--keep-founders
: Exclude nonfounder samples.
--keep-nonfounders : Exclude founder samples.
--keep-if <pheno/covar> <op> <val> : Exclude samples which don't/do satisfy a
--remove-if <pheno/covar> <op> <v>
comparison predicate, e.g. --keep-if "PHENO1 == case"
Unless the operator is !=, the predicate
always evaluates to false when the phenotype/covariate is missing.
--nonfounders
: Include nonfounders in allele freq/HWE calculations.
--bad-freqs
: When PLINK 2 needs decent allele frequencies, it normally errors out if they
aren't provided by --read-freq and less than 50 founders are available to impute
them from. Use --bad-freqs to force PLINK 2 to proceed in this case.
--bad-ld
: PLINK 2 normally errors out when it needs to estimate LD between variants, but
there are less than 50 founders to estimate from. Use --bad-ld to force PLINK 2 to
proceed.
--export-allele <file> : With --export A/A-transpose/AD, count alleles named
in the file, instead of REF alleles.
--output-chr <MT code> : Set chromosome coding scheme in output files by
providing the desired human mitochondrial code. Options are '26', 'M', 'MT', '0M',
'chr26', 'chrM', and 'chrMT'; default is now 'MT' (note that this is a change from
PLINK 1.x, which defaulted to '26').
--output-missing-genotype <ch> : Set the code used to represent missing
genotypes in output files (default '.').
--output-missing-phenotype <s> : Set the string used to represent missing
phenotypes in output files (default 'NA').
--sort-vars [mode]
: Sort variants by chromosome, then position, then ID. The following string orders
are supported: * 'natural'/'n': Natural sort (default). * 'ascii'/'a': ASCII.
This must be used with --make-[b]pgen/--make-bed.
--set-hh-missing ['keep-dosage'] : Make --make-[b]pgen/--make-bed set non-MT
heterozygous haploid hardcalls, and all female chrY calls, to missing. (Unlike
PLINK 1.x, this treats unknown-sex chrY genotypes like males, not females.) By
default, all associated dosages are also erased; use 'keep-dosage' to keep them
all.
--set-mixed-mt-missing ['keep-dosage'] : Make --make-[b]pgen/--make-bed set
mixed MT hardcalls to missing.
--split-par <bp1> <bp2> : Changes chromosome code of all X chromosome
--split-par <build>
variants with bp position <= bp1 to PAR1, and those with position >= bp2 to PAR2.
The following build codes are supported as shorthand: * 'b36'/'hg18' = NCBI 36,
2709521/154584237 * 'b37'/'hg19' = GRCh37, 2699520/154931044 * 'b38'/'hg38' =
GRCh38, 2781479/155701383
--merge-par
: Merge PAR1/PAR2 back with X. Requires PAR1 to be positioned immediately before
X, and PAR2 to be immediately after X. (Should *not* be used with "--export vcf",
since it causes male homozygous/missing calls in PAR1/PAR2 to be reported as
haploid.)
--merge-x
: Merge XY back with X. This usually has to be combined with --sort-vars.
--set-missing-var-ids <t>
: Given a template string with a '@' where the
--set-all-var-ids <t>
chromosome code should go and '#' where the bp coordinate belongs,
--set-missing-var-ids assigns chromosome-and-bp-based IDs to unnamed variants,
while --set-all-var-ids resets all IDs. You may also use '$r'/'$a' to refer to the
ref and alt1 alleles, or '$1'/'$2' to refer to them in alphabetical order.
--var-id-multi <t>
: Specify alternative templates for multiallelic
--var-id-multi-nonsnp <t>
variants. ('$a' and '$1'/'$2' should be avoided here, though they're technically
still allowed.)
--new-id-max-allele-len <len> [{error | missing | truncate}] :
Specify maximum number of leading characters from allele codes to include in new
variant IDs, and behavior on longer codes (defaults 23, error).
--missing-var-code <str>
: Change unnamed variant code for --rm-dup, --set-{missing|all}-var-ids, and
--recover-var-ids (default '.').
--update-map
<f> [bpcol] [IDcol] [skip] : Update variant bp positions.
--update-name <f> [newcol] [oldcol] [skip] : Update variant IDs.
--recover-var-ids <file> ['strict-bim-order'] [{rigid | force}] ['partial'] :
Undo --set-all-var-ids, given the original .pvar/VCF/.bim file.
Original
IDs are looked up by position and allele codes. * By default, if the original-ID
file is a .bim, allele order is ignored.
Use 'strict-bim-order' to force A1=ALT, A2=REF.
* If any variant has multiple matching records in the original-ID file, and
the IDs conflict, --recover-var-ids writes the affected (current) ID(s) to <output
prefix>.recoverid.dup, and normally errors out. If the original-ID file has the
same number of variants in the same order, you can still recover the old IDs with
the 'rigid' modifier in this case. Alternatively, to proceed and assign the
missing-ID code to these variants, add the 'force' modifier. (The .recoverid.dup
file is still written when 'rigid' or 'force' is specified.)
* --recover-var-ids normally expects to replace all variant IDs, and errors
out if any are left untouched.
Add the 'partial' modifier when you
actually want to update just a proper subset.
--update-alleles <fname>
: Update variant allele codes.
--update-ids <fname>
: Update sample IDs.
--update-parents <fname>
: Update parental IDs.
--update-sex <filename> ['col-num='<n>] ['male0'] :
Update sex information. * By default, if there is a header line starting with
'#FID'/'#IID', sex is
loaded from the first column titled 'SEX' (any capitalization); otherwise, column 3
is assumed. Use 'col-num=' to force a column number.
* Only the first character in the sex column is processed.
By default,
'1'/'M'/'m' is interpreted as male, '2'/'F'/'f' is interpreted as female, and
'0'/'N' is interpreted as unknown-sex. To change this to '0'/'M'/'m' = male,
'1'/'F'/'f' = female, anything else other than '2' = unknown-sex, add 'male0'.
--real-ref-alleles
: Treat A2 alleles in a PLINK 1.x fileset as actual REF alleles; otherwise they're
marked as provisional.
--maj-ref ['force'] : Set major alleles to reference, like PLINK 1.x
automatically did. (Note that this is now opt-in rather than opt-out;
--keep-allele-order is no longer necessary to prevent allele-swapping.) * This can
only be used in runs with
--make-bed/--make-[b]pgen/--export and no other
commands.
* By default, this only affects variants marked as
having 'provisional' reference alleles. Add 'force' to apply this to all variants.
* All new reference alleles are marked as provisional.
--ref-allele ['force'] <filename> [refcol] [IDcol] [skip]
--alt1-allele ['force'] <filename> [alt1col] [IDcol] [skip] :
These set the alleles specified in the file to ref (--ref-allele) or alt1
(--alt1-allele). They can be combined in the same run. * These can only be used
in runs with --make-bed/--make-[b]pgen/--export
and no other commands.
* "--ref-allele <VCF filename> 4 3 '#'", which scrapes reference allele
assignments from a VCF file, is especially useful.
* By default, these error out when asked to change a 'known' reference
allele.
Add 'force' to permit that (when e.g. switching to a new
reference genome).
* When --alt1-allele changes the previous ref allele to alt1, the previous
alt1 allele is set to reference and marked as provisional.
--ref-from-fa ['force'] : This sets reference alleles from the --fa file when
it can be done unambiguously (note that it's never possible for deletions or some
insertions). By default, it errors out when asked to change a 'known' reference
allele; add the 'force' modifier to permit that.
--normalize ['list']
: Left-normalize all variants, using the --fa file.
(alias: --norm)
(Assumes no differences in capitalization.) The 'list' modifier causes a list of
affected variant IDs to be written to <output prefix>.normalized.
--indiv-sort <mode> [f] : Specify sample ID sort order for merge and
--make-[b]pgen/--make-bed. The following four modes are supported: * 'none'/'0'
keeps samples in the order they were
loaded.
Default for non-merge.
* 'natural'/'n' invokes "natural sort", e.g.
'id2' < 'ID3' < 'id10'. Default when merging.
* 'ascii'/'a' sorts in ASCII order, e.g.
'ID3' < 'id10' < 'id2'.
* 'file'/'f' uses the order in the given file
(named in the last argument).
--king-table-filter <min>
: Specify minimum kinship coefficient for inclusion in --make-king-table report.
--king-table-subset <f> [kmin] : Restrict current --make-king-table run to
sample pairs listed in the given .kin0 file. If a second argument is provided,
only sample pairs with kinship >= that threshold (in the input .kin0) are
processed.
--condition <variant ID> [{dominant | recessive}] ['multiallelic']
--condition-list <fname> [{dominant | recessive}] ['multiallelic'] :
Add the given variant, or all variants in the given file, as --glm covariates. By
default, this errors out if any of the variants are multiallelic; add the
'multiallelic' ('m' for short) modifier to allow them. They'll effectively be
split against the major allele (unless --glm's 'omit-ref' modifier was specified),
and all induced covariate names--even for biallelic variants--will have an
underscore followed by the allele code at the end.
--parameters <...> : Include only the given covariates/interactions in the
--glm model, identified by a list of 1-based indices and/or ranges of them.
--tests <...>
: Perform a (joint) test on the specified term(s) in the
--tests all --glm model, identified by 1-based indices and/or ranges
of them. * Note that, when --parameters is also present, the
indices refer to the terms remaining AFTER pruning by
--parameters.
* You can use '--tests all' to include all terms.
--vif <max VIF>
: Set VIF threshold for --glm multicollinearity check (default 50). (This is no
longer skipped for case/control phenotypes.)
--max-corr <val>
: Skip --glm regression when the absolute value of the correlation between two
predictors exceeds this value (default 0.999).
--xchr-model <m>
: Set the chrX --glm/--condition[-list]/--[v]score model. * '0' = skip chrX. *
'1' = add sex as a covar on chrX, code males 0..1. * '2' (default) = chrX sex
covar, code males 0..2. (Use the --glm 'interaction' modifier to test for
interaction between genotype and sex.)
--adjust ['zs'] ['gc'] ['log10'] ['cols='<column set descriptor>] :
For each association test in this run, report some basic multiple-testing
corrections, sorted in increasing-p-value order. Modifiers work the same way as
they do on --adjust-file.
--lambda
: Set genomic control lambda for --adjust[-file].
--adjust-chr-field <n...>
: Set --adjust-file input field names. When
--adjust-pos-field <n...>
multiple arguments are given to these flags,
--adjust-id-field <n...>
earlier names take precedence over later ones.
--adjust-ref-field <n...>
--adjust-alt-field <n...>
--adjust-a1-field <n...>
--adjust-test-field <n...>
--adjust-p-field <n...>
--ci <size>
: Report confidence ratios for odds ratios/betas.
--pfilter <val>
: Filter out assoc. test results with higher p-values.
--score-col-nums <...> : Process all the specified coefficient columns in the
--score file, identified by 1-based indexes and/or ranges of them.
--q-score-range <range file> <data file> [i] [j] ['header'] ['min'] :
Apply --score to subset(s) of variants in the primary score list(s) based on e.g.
p-value ranges. * The first file should have range labels in the first column,
p-value
lower bounds in the second column, and upper bounds in the third column. Lines
with too few entries, or nonnumeric values in the second or third column, are
ignored.
* The second file should contain a variant ID and a p-value on each line
(except possibly the first).
Variant IDs are read from column #i and
p-values are read from column #j, where i defaults to 1 and j defaults to i+1. The
'header' modifier causes the first nonempty line of this file to be skipped.
* By default, --q-score-range errors out when a variant ID appears multiple
times in the data file (and is also present in the main dataset).
To use
the minimum p-value in this case instead, add the 'min' modifier.
--vscore-col-nums <...> : Process all the specified coefficient columns in
the --variant-score file, identified by 1-based indexes and/or ranges of them.
--parallel <k> <n> : Divide the output matrix into n pieces, and only compute
the kth piece. The primary output file will have the piece number included in its
name, e.g. plink2.king.13 or plink2.king.13.zst if k is 13. Concatenating these
files in order will yield the full matrix of interest. (Yes, this can be done
before decompression.) N.B. This generally cannot be used to directly write a
symmetric square matrix. Choose square0 or triangle shape instead, and postprocess
as necessary.
--memory <val> ['require'] : Set size, in MiB, of initial workspace malloc
attempt. To error out instead of reducing the request size when the initial
attempt fails, add the 'require' modifier.
--threads <val>
: Set maximum number of compute threads.
--d <char>
: Change variant/covariate range delimiter (normally '-').
--seed <val...>
: Set random number seed(s). Each value must be an integer between 0 and
4294967295 inclusive. Note that --threads and "--memory require" may also be
needed to reproduce some randomized runs.
--output-min-p <p> : Specify minimum p-value to write to reports.
(2.23e-308 is useful for preventing underflow in some programs.)
--debug
: Use slower, more crash-resistant logging method.
--randmem
: Randomize initial workspace memory (helps catch uninitialized-memory bugs).
--warning-errcode
: Return a nonzero error code to the OS when a run completes with warning(s).
--zst-level <lvl>
: Set the Zstd compression level (1-22, default 3).
Primary methods paper: Chang CC, Chow CC, Tellier LCAM, Vattikuti S, Purcell SM, Lee JJ
(2015) Second-generation PLINK: rising to the challenge of larger and richer datasets.
GigaScience, 4.
SEE ALSO
The full documentation for PLINK v2.00a3 64-bit (9 Apr is maintained as a Texinfo manual.
If the info and PLINK v2.00a3 64-bit (9 Apr programs are properly installed at your site,
the command
info PLINK v2.00a3 64-bit (9 Apr
should give you access to the complete manual.