1. Introduction
2. Basic information
3. Download and general notes
4. Command reference table
5. Basic usage/data formats
6. Data management
7. Summary stats
8. Inclusion thresholds
9. Population stratification
10. IBS/IBD estimation
11. Association
12. Family-based association
13. Permutation procedures
14. LD calculations
15. Multimarker tests
16. Conditional haplotype tests
17. Proxy association
18. Imputation (beta)
19. Dosage data
20. Meta-analysis
21. Annotation
22. LD-based results clumping
23. Gene-based report
24. Epistasis
25. Rare CNVs
26. Common CNPs
27. R-plugins
28. Annotation web-lookup
29. Simulation tools
30. Profile scoring
31. ID helper
32. Resources
33. Flow-chart
34. Miscellaneous
35. FAQ & Hints
36. gPLINK
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Changelog
This page contains a version history recording changes and additions
to PLINK.
V1.07 (10-Oct-2009)
- Added --meta-analysis function
- Added --annotate function
- Added --dosage, --write-dosage, etc
- Added --Z-genome and ability to read compressed .genome.gz
- Added --simulate-qt to simulate quantitative trait data
- Added --recode-rlist and --recode-lgen/--with-reference
- Added preliminary ZLIB support for reading and writing compressed files directly
- Added --standard-beta for --linear
- Added --counts to modify --assoc output
- Added dosage-based score analysis
- Changed how options are passed to commands
- Changed order of --reference-allele and --freq, so that the reference is
now fixed prior to calculating and reporting allele frequencies
- Improved speed of binary file merging
- MAF-based SNP removal for --indep-pairwise option
- Fixed bug in --blocks routine
- Fixed bug in --adjust with quantitative trait --assoc
- Fixed bug in --fisher and --adjust
- Fixed bug in --set-test with selection of SNPs in LE
V1.06 (24-Apr-2009)
- Added --show-tags and modifiers, including --list-all
- Added --blocks command
- Added --hap-logistic and --hap-linear (with support for covariates and permutation)
- Added --hap-omnibus that modifies --hap-linear and --hap-logistic
- Add multiple sizes for sliding window (--hap-window 1,2,3)
- Fixed issue with D' calculation in --ld command
- Added --inter-chr option
- Now enable --ci to work with --chap
- Added --id-dict, --id-match, --id-replace, --id-alias, --id-table, --id-lookup, etc
- Added SVD speedup using LAPACK compile-time option
- Added --reference {file} to complement --lfile
- Added --allele-count and --compound-genotype support for LGEN files
- Added --attrib and --attrib-indiv options
- Added --thin command to prune SNPs randomly
- Added --hide-covar option for GLM tests
- Added --make-perm-pheno {N} to create plink.pphe
- Added --cnv-check-no-overlap
- Fixed bug that stopped --cnv-method2 from working
- Can now make sets on-the-fly; added --write-set option
- Added --make-set-complement {label}
- Now added a group field to ranges; added --make-set-collapse-group, --make-set-complement-group
- Fixed issue when mapping ranges to SNPs, would not properly include all end SNPs
- Fixed it that --range can take >3 cols (--extract file.txt --range )
- Added --update-pheno (i.e. similar to --pheno, but doesn't set to missing all non-included people
- Fixed bug in --update-sex and --update-parents
- Fixed problem with --update-chr
- Changed basic --assoc OR calculation to avoid int size limits in v. large samples
- Changed --model --perm to only consider ALLELIC, DOM, REC (not GENO)
- Add chr XY for --dog
- Added --mouse support
- Fixed input to now allow comment lines (starting with #) in MAP files
- Added --R-port command
- Skip zero-ing MEs when rel-check/genome mode
- Add --q-score-range and --q-score-file options to modify --score
- Added --simulate-haps, and format/error checks for --simulate files
V1.05 (11-Dec-2008)
- Added support for multiple return values from R-plugins; changed basic protocol
- Added --beta modifier to --logistic, to return beta coefficients, not odds ratios
- Fixed minor inconsistencies in --cnv-freq-include-exact:
now --cnv-freq-exclude-above 1
equals --cnv-freq-include-exact 1 when used with default
overlap thresholds
- Fixed problem with HWE output
- Added --cnv-test-region option for CNV mapping
- Added the --subset command to work with --set
- Changed --clump-best to preferentially take the same SNP
- Added option to downweight set-based tests with --lambda
- Added option --reference-allele to specify manually which
is reference allele A1, i.e. instead of minor allele
- Added support for --rice chromosomes
- Added --ld-snp-list option
- Added --make-set-collapse
- Added --update-alleles, --update-chr, --update-name,
--update-ids, --update-sex and --update-parents
- The --pfilter command now works for --mh
- Fixed problem with the --hap-tdt command (wasn't working in 1.04 at all)
- Added support for SNP-specific and genotype-specific quality
score filters (--qual-scores and --qual-geno-scores, with corresponding commands
--qual-threshold and --qual-max-threshold
and --qual-geno-threshold and --qual-geno-max-threshold
- Made default --score behavior to impute missing genotype scores based on sample frequency,
unless --score-no-mean-imputation specified
- Fixed minor issue with --simulation routine (now we do not assume HWE holds within
cases and controls, but only in the population as a whole).
- Output format of .genome file is changed
- Modified --genome to display the type of relationship,
and expected IBD sharing level, if pair are in same family; also
changed output format
- Added --rel-check modifier to --genome, so that
only pairs within the same FID code are considered
- Modified --read-genome option to accept different format .genome files, by looking for header rows rather than assuming fixed column number/order
- Added --set-table command to make a SNP by SET matrix
- Added --tucc option to make pseudo case/control units from trio data
V1.04 (26-Aug-2008)
- Added -gene-report function (with --gene-list, etc)
- Added --cnv-subset option
- Added --cnv-verbose-report-regions option
- Added --clump-best, --clump-range and --clump-range-border
- Added new LD-aware set-based test and functions --set-p, --set-r2
- Added ability to include --covar with --gvar
- Added --flip-subset option, to flip strand only for some individuals
- Added --flip-scan procedure, to identify likely strand-flip errors
- Added --mperm-save and --mperm-save-all options
- Now reports sample summary after filtering for QTs, as for case/control data
- Now --pfilter works on .adjusted output files also
- Changed default behavior to not set pheotype to missing if sex code is missing
- Changed --recode, etc, output names to plink.ped, etc, rather than plink.recode.ped
- Added --must-have-sex option to set phenotype to missing when recoding data
- Added --make-pheno {file} * feature to set as cases people in {file}, else control
- N_GENO field is now always reported in the missing data output
- Added fields PHOM and PHET to .hom output (and modified --read-homozyg also)
- Added function --compound-genotype to allele AG, 11, 00, etc in PED files only
- Changed default thresholds (to be similar to --all)
- Added --output-missing-phenotype and --output-missing-genotype options
- Added --keep-allele-order to stop flipping of allele codes when minor allele frequency is greater than 0.5
- Added --proxy-b-r2 to specify alternate proxy parameters for rarer alleles
- Added allele codes and frequencies to --homog output files
- Added allele code fields to --hardy and --model output
- Fixed female Y chromosome genotype rate counting
- Fixed a problem with --proxy-glm and missing haplotypic data
- Fixed --R function to send counts of minor, not major, allele
- Fixed issue with missing genotypes and --gvar association statistics
- Fixed minor bug with --hardy2 and --hwe2
- Fixed problem when --sex used with --chap test
- Fixed problem with --qfam routine when there are no valid observations
- Fixed a bug with the --score function
- Fixed a bug with --hap-impute when used on the X chromosome
- Fixed a bug in the CNV frequency filter commands
- Corrected mislabelling of distances/similarities for IBM clustering
- Removed Hotelling's T2 test from this version
- Updated the --lookup routines; changed the backend server considerably
- Updated Rserve client code for use with Rserve version 0.5.2
- Added gene-lists to resources section on web
- Updated HapMap resource to latest release
V1.03 (10-Jun-2008)
- Added teaching material/tutorial to resources section of web
- Added --write-cluster, which can handle strings
- Added --cnv-freq-exclude-exact and --cnv-freq-include-exact
- Added --cnv-region-overlap
- Displays type and score display in --segment-group for CNVs
- Fixed problem with --read-freq
- Fixed problem with --hethom and X chromosome data
- Fixed problem when --condition and --genotypic used together
- Added --genome-minimal and --read-genome-minimal
- Now possible to --filter on strings and lists of strings
- Added --make-pheno command to generate a binary phenotype given string filter
- Allow --keep and --remove files to have additional columns beyond two
- Additional case/control statistics given in LOG after filtering
- Fixed a bug in the --hap-tdt and --proxy-tdt analyses
- Added the --make-set and --make-set-border commands
- Added --lookup-kb and --lookup-gene-kb
- Added --lookup-gene-list (to create a SET file)
- Added additional output information to SNP and gene lookups
- Added --ld-snp command to modify the behaviour of --r2
- LD pruning now considers non-autosomal markers
- Fixed some issues with non-human data and the IBS/IBD calculation (previously skipped chromosomes over 22)
V1.02 (27-Mar-2008)
- Added beta versions of CNV and generic variant commands, described here
- Created a PDF version of the web page
- Added --hethom flag to modify --genotypic
- Added --seed to specify a fixed random seed
- Added --recode-allele to modify --recodeA
- Fixed issue with --clump-index-first option
- Enabled PED files to be input from standard input (--ped -)
- Fixed potential error in --chap output when test not defined
V1.01 (28-Jan-2008)
- Added --dummy-coding modifier for --write-covar
- Added --upate-map
- Outputs phenotype names for --all-pheno if given
- Reworked --mds-plot and --mds-cluster option to
work with --within and without re-running the clustering
- Fixed --qfam issues with permutation test
- Changed defaults for --proxy-assoc and --proxy-impute
- Changed direction of allele coding for proxy association options
- Changed --proxy-r2-filter command (3 parameters) and naming
- Changed syntax for proxy association options, --proxy-r2, etc
- Added --proxy-glm method
- Fixed problems with --hap-impute
- Fixed problem with --hap-window
- Issue with hyphens in SNP names and use as range delimiter (--d)
- Fixed issue with numeric chromosome codes greater than 22 and --file
- Changed output format of TDT and CMH commands
- Make monomorphic SNPs have missing alleles in output if forced
- Fixed minor problem with --bmerge when more than 2 alleles seen per SNP
- Physical position output correctly with --genotypic option
- Changed threshold to print NA in logistic
- Changed headers BETA or OR in GLM output for clarity
- Now --recodeA and --recodeAD count number of minor alleles
- Added --sheep option
- Fixed problem with --homozyg
V1.00 (4-Dec-2007)
- Added conditional haplotype-based testing (--chap)
- Added simple data simulation option (--simulate)
- Added/extended SNP imputation functions (--proxy-assoc and --proxy-impute)
- Added LD-based results clumping procedure (--clump)
- Added option to select specific covariates (--values)
- Added ability to specify lists and ranges of SNPs (--snps)
- Added ability to select ranges based on regions (--range)
- Added proxy selection features based on LD (--proxy-r2-filter)
- Added simple "risk-profile" tool (--score)
- Fixed issue with scaling of covariates in GLMs
- Added --rerun option to repeat analysis given LOG file
- Added --write-snplist option
- Fixed dirction-of-effect error in haplotypic QTL test
- Enabled --fisher to work with --model
- Made variance inflation factor default value less stringent
- Fixed some problems with haplotype TDT
- Fixed problem with slightly different p-values for QTL tests from --adjust
- Fixed bug in --all-pheno option when used with disease traits
- Fixed bug in --epistasis routine regarding handling of missing data
V0.99s (26-July-2007)
- Added SNP annotation --lookup set of options
- Added proxy assocition functions (--proxy-assoc, etc)
- Added extensible R plugin functionality (--R)
- Added --lfile option for long-format input
- Fixed problem with all-male or all-female X chromosome test
- Added r-squared calculation for two SNPs based on haplotype frequencies
- Added geno-grouping speedup to E-M algorithm; fixed minor problem with
treatment of missing genotype data
- Added --oblig-missing and --oblig-cluster options, to specify obligatory-missing genotypes
- Added --impute-sex option
- Added concordance calculation to --merge-mode 6 and 7
- Added haplotype support for X and haploid chromosomes
- Added haplotype support for quantitative trait analysis
- Mendel error filter now zero's out the people implicated as per heurtistic described
here
- Fixed output commands to use user-defined missing phenotype and genotype values
- Added dominant and recessive models for --linear and --logistic
- Improved convergence of EM haplotyping routine
- Fixed minor bug in --parameters function
- Added --lambda option to fix genomic control factor
- Added --log10 option to change output in *.adjusted
- Added --horse species option
- Added --qq-plot function
- Added --loop-assoc option
- Added --distance-matrix option
- Changed implementation and interface of the --homozyg-* methods
- Enabled permutation and set-tests with --dfam
- Added ability to constrain --cluster with --within
- Added --recode-bimbam, --recode-fastphase and
--recode-structure options
- Fixed minor issue with --het command
- Added --liability option
- Fixed issue with --genotypic and --covar
- Fixed issue with --dfam
V0.99r (29-April-2007)
- Added --parameters and --tests options
- Added --zero-cluster option
- Added --no-fid, --no-parents, --no-sex and --no-pheno options
- Added --with-phenotype flag to modify --write-covar
- Now give a warning if fileroots contain a fullstop/period character
- Added --fisher for Fisher's exact test; use this in --test-missing
- Added --set-test option
- DFAM can include unrelateds (possibly in clusters) as well as
families in a combined test
- Improved multicollinearity check in linear model tests
- Added --all-pheno option for some tests
- Enabled permutation for --mh
- Added XY and MT chromosome support
- Fixed problem with --hap-window introduced in 0.99q
- Fixed --homog for X and changed output format
- Fixed problem with --out and --script
introduced in 0.99q
V0.99q (3-March-2007)
- Support for PED files larger than 4GB
- Added --tfile to load transposed (row=SNP,column=person)
files (i.e. as from --recode --transpose)
- Added --recodeA option (like --recodeAD but only output additive components)
- Added --write-covar option and also ability to include
covariate files when recoding or making binary files
- Add simple filters: --filter-cases, --filter-controls, --filter-males,
--filter-females, --filter-founders and --filter-nonfounders
- Added weighted multimarker tests with --whap
- Added X chromosome and haploid models for --linear
and --logistic with --xchr-model
- Add --set-me-missing -- now, by default, remaining
(i.e. for SNPs/individuals not removed) Mendel errors
are not fixed to zero when recoding (--make-bed, etc)
a file and filtering on --me.
- Fixed bug in loading of covariates which made missing phenotypes
- Changed implementation of --fast-epistasis
- Fixed minor --bmerge issue with monomorphic alleles in
offspring-only subsamples
- Added --allele1234 and --alleleACGT options
- Fixed CMH output to NA rather than -9
- Added web-based context-specific warnings
V0.99p (16-January-2007)
- Fixed bug in loading of covariates which made missing phenotypes
no longer missing (e.g. -9 phenotype would have been treated literally
as -9)
- Fixed bug in --bmerge function when merged-in SNPs
already exist
- Added --transpose option to modify --recode
- Fixed bug in --genotypic option that lead to incorrect results
- Added --test-all option for --linear and --logistic
- Changed --fast-epistasis to use correlational test
- Added --ci support for --linear and --logistic
- Added --mds-plot option
- Now allow --remove and --keep together (similarly for --extract and
--exclude
- Added --genome-lists option to facilitate parallization of --genome
- Added lower pool size in pool segment output, with --pool-size option
- Added odds ratio calculation for --model tests
- Modified --qfam within test (only model W)
- Added --check-sex option
- Cleaned up excessive memory use issue when merging multiple files
- Added speed-up and bug fixes to QFAM routines
- Added gPLINK compatibility via --gplink flag
- Now treats half-missing genotypes, e.g. A 0 as missing
rather than giving an error (haploid genotypes should still be coded as
homozygous)
- Recode file options (--make-bed, --recode, etc)
now do not automatically set haploid heterozygous genotypes to missing,
unless --set-hh-missing specified
- No longer sets p-values <1e-16 to 0
- Now use t-statistic for QTL test
- Improved verbose segmental output (separate files)
- Added --filter and --mfilter options
V0.99o 27-November-2006
- Permutation applicable to --test-missing option
- Added --twolocus output option
- Added --overlap option
- Added --logistic and --linear options
- Added --genotypic and --interaction options
- Reframed --homozyg tests
- Added epistasis using linear (QT) and logistic regression models
- Fixed bug in haplotype-based TDT test (counted transmissions to
unaffecteds)
- IBD estimation adjusted, and fixed a minor bug
V0.99n 11-October-2006
- Added option to print warning when duplicate individual or marker IDs
are found
- Added --read-segment option
- Changed output format of HWE and genotypic/model association tests
- Implemented new bias-correct IBD estimators
- Fixed minor bug that could cause problems when merging datasets on some platforms
- Large restructuring of haplotype inference code
- Added --test-mishap option
- Added --indep-pairwise option
- Added --hap-window option
- Added --ld-window option
- Added --plist option
- Added --read-genome option
- Added --map3 option
V0.99m 23-August-2006
- Added --gene extraction option
- Fixed bug affecting labels after set pruning
- Added --list output option
- Added --counts option to modify --freq
- Fixed bug in the Hotelling's T(2) test handling of missing genotypes
- Added permutation options for --model
- Fixed minor bug introduced in v0.99l that caused crash when attempting a set-based TDT analysis
- Altered some field headers in various output files for greater consistency
V0.99l 27-July-2006
- Added --bmerge option to merge in a binary file
- Added framework for QFAM test (option not yet available in release version)
- Added Wiggington et al (AJHG, 2005) exact Hardy-Weinberg calculation
- Added --from-kb etc options to select regions
V0.99j 14-July-2006
- Added --window option to extract a +/- X kb region around a
given SNP
- Fixed bug which made set VIF pruning fail with a set containing a
single SNP
- Redircted ambiguous sex and no-non-missing-founders messages to files
(plink.nosex and plink.nof) rather than to plink.log
- Fixed bug in HWE tests which meant non-founders were included
V0.99i 5-July-2006
- Improved parsing of PED and haplotype specification files; fixed some minor bugs
since 0.99h in this regard, mainly DOS versus UNIX issues
- Fixed bug in haploTDT routine
- Implemented gene-based canonical correlation test within PLINK (previously, an R
script was generated and this analysis was performed externally)
- Added feature to scan genome and extract a set of SNPs that are relatively
uncorrelated with each other (sliding window based on VIF; implemented in the
--indep option)
V0.99h 29-June-2006
- Added option to prune SNPs based on LD (i.e. select an independent
subset of SNPs) using the --indep option
- Fixed bug that occurred when creating a binary map file if a SNP had
no non-missing alleles (i.e. previously one allele field was left blank,
meaning that the file would not be properly read in subsequently)
- Improved Hotelling's T(2) calculation -- now it better handles highly or completely correlated
SNPs
- Added singular value decomposition routines and variance inflation calculation
- Add --allow-no-sex option to differently handle individuals with ambiguous sex codes
- Fixed bug in --r and --r2 routines
V0.99g 20-June-2006
- Implemented web-based version checking
- Fixed error in which families counted twice when filtering
on Mendel errors and performing TDT also
- Added column count check for PED files
- Allowed comments in PED files (lines starting #) for basic input and
merge commands
- Fixed specification of --gap for case-only epistasis tests
-- using kb now, not bp
V0.99f 12-June-2006
- Fixed bug that TDT in version 0.99e (but not prior
versions), that meant that transmissions to unaffecteds
as well as affecteds were counted
- Improved parsing of --merge-list for end-of-file
V0.99e 9-June-2006
- Improved efficiency of haplotype phase routine
- Added nearest neighbour identification in --neighbour
routine, and fixed a minor bug
- Added support for haplotypic TDT test
- Fixed error in homozygosity-run analysis
- Fixed error in handling of monomorphic variants when
creating a binary map file
- Added --snp option to select single SNPs
- Added out-of-memory warning
V0.99c 23-May-2006
- Fixed error in conversion from SNP-major to individual-major data representations that
effected Mendel error check routines
V0.99b 16-May-2006
- Fixed error in Hardy-Weinberg calculations for quantitative traits
- Implemented --nudge and --impossible features for IBD calculation
V0.99 30-Apr-2006
- Major internal restructuring to hold data in either row-major or column-major formats, depending
on choice of analysis (i.e. order genotypes either by individual or by SNP in memory).
- Added ability to stratify summary statistics by a cluster variable
- Improved parsing of haplotypes ( creates .mishap file for mis-specified haplotypes)
- Fixed bug in CMH tests (problem with individuals who were not assigned to a cluster)
- Fixed problem with extracting SNPs and individuals with binary PED files
V0.98 19-Apr-2006
- Added support for adjusted significance test calculation (Bonferroni, FDR, Sidak, etc)
- Added --script feature to allow long command lines
- Added --1 feature to allow for 0/1 coding of affection variables
- Added --tab feature to control field delimiters in recoded PED files
- Added proper support for combined label-swapping and gene-dropping permutation (--swap-parents,
--swap-sibs and --swap-unrel
- Corrected bug in filters for binary files that aren't in genomic order (i.e.
those that result from merge operations).
V0.97 10-Apr-2006
- Added Hotelling's T2 test for multilocus SNP data
- Added a test for interaction with quantitative traits and a
dichotomous covariate
- Added --merge-list option to merge more than
two filesets simultaneously
- Fixed bug quantitative trait association test (not dealing with
missing phenotypes properly)
- Fixed some minor bugs with parsing the command line
V0.96 30-Mar-2006
- Fixed bug in --remove option
- Added Breslow-Day test of homogeneous odds ratios
- Added option to skip nearby SNPs in case-only epistasis test
- Added time/date stamps to output
- Records output in *.log file; most remaining output echoed to
STDOUT instead of STDERR (aside from errors and warnings)
- Improved parsing of command lines (checking numeric inputs, etc)
- Added -mcc option to specify number of cases:controls in
clustering, e.g. for 3:1 matching of cases to controls, for example.
V0.95 20-Mar-2006
- Added Cochran-Mantel-Haenszel tests (2x2xK and IxJxK)
- Added homogeneity of odds ratio between clusters test (partitioning
chi-square)
- Added support for gene-dropping simulation
V0.94 7-Mar-2006
- Added feature to perform error checking of command line
options (scan for unused options)
- Ability to include external matching criteria for --cluster
added
- Ability to specify merge modes and a diff function for PED
files
V0.93 1-Mar-2006
- X chromosome support added for basic association test & quantitative
traits
- Threshold for --genome output based on pi-hat exceeding
--min
V0.92 22-Feb-2006
- X chromosome support added for case/control tests, quantitative trait association, TDT, genotypic
correlations, allele frequency statistics. Not yet implemented for the population stratification,
inbreeding
or epistasis tests.
- --chr and --from X and --to X options added
- Some problems with the --merge option corrected
- Now only considers founders for the allele frequency and HWE tests
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