Input/Output/Program flow
| Name | Description |
Default input file |
|
| --fam <path> | Specify the name of PLINK format family file(.fam). |
| --vcf <path> | Specify the name of Variant Calling Format file (.vcf). |
Optional/alternative input file |
|
| --bed <path> | Specify the name of PLINK binary format .bed file. |
| --bim <path> | Specify the name of PLINK binary format .bim file. |
| --pheno <path> | Specify the name of phenotype file, space delimited, with header line, the first 5 columns to be named as (FID IID fatid matid sex) and contains the same information as in .fam file, the phenotype data starting from 6th column. |
| --set <path> | Specify the name of geneset file for gene-based association analysis, see the gene-based association analysis section for detail. |
| --par | Specify the name of parameter file for segregation analysis, see the segregation analysis section for detail. |
| --typ | Specify the name of type probability file for model-based linkage analysis (LODLINK), see the model-based linkage analysis section for detail. |
| --map <path> | Specify the name of map file for model-free linkage analysis (MERLIN), see the model-free linkage analysis section for detail. |
| --script <path> | Specify the name of script file including all command-line options selected for a run. |
Output file |
|
| --out <path_prefix> | Specify the root name of output file(s) for a run |
Input data handling |
|
| --1sex | Sex is coded as (0=male; 1=female; other=unknown), the deafult is (1=male; 2=female; other=unknown). |
| --1case | Case/control status is coded as (0=control; 1=case; other=unknown) for binary trait, the deafult is (1=control; 2=case; -9=missing). |
| --mispheno <string> | Specify the missing value for phenotype in fam file when other than -9 is used. |
| --misgeno <string> | Specify the missing value for genotype in vcf file when other than 0 or NA is used. |
| --model <additive|dominant> | Specify the genetic model (additive or dominant) to use. |
Other |
|
| --pname <string[(,string)+]> | Specify the name of main trait(s) for a run, use with --pheno option. |
| --cname <string[(,string)+]> | Specify the name of covariate(s) for a run, use with --pheno option. |
| --thread <integer> | Specify the number of threads to be used for a run. |
| --verbose | Report the additional analyses information. |
InfoQC analysis
| Name | Description |
Variant information |
|
| --fst | Compute Fst, need to specify a column name from pheno file for group information. |
| --tstv | Compute Ts/Tv ratio, need to specify a positive number. |
| --freq | Compute the allele frequences. |
| --hwe | Perform Hardy-Weinburg Eqilibrium test. |
| --pca | Compute the principal components. |
| --npc | Specify the number of principal components to compute, use with --pca option. |
Sample information |
|
| --het | Find the heterozygote. |
| --hethom | Find the heterozygote/homozygote ratio. |
Pedigree information |
|
| --famuniq | Export SNV list of uniquely exists in the specific famliy. |
| --relpair | Find all relative pairs in pedigree data. |
| --plot | Plot pedigree(s). |
Error detection |
|
| --mendel | Check for medelian error(s). |
Relatedness |
|
| --makecor | Compute the relationship matrix using GRM matrix by default. |
| --kinship | Use kinship matrix instead of GRM, use with --makecor (and all analyses that use the relationship matrix). |
| --ibs | Use ibs matrix instead of GRM, use with --makecor (and all analyses that use the relationship matrix). |
Trait analysis
| Name | Description |
Familial aggregation |
|
| --fcor | Compute multivariate familial correlations with their asymptotic standard errors. |
| --fcorStdErrOff | Do not calculate the asymptotic standard errors, axillary option of --fcor option. |
Heritability |
|
| --heritability | Compute narrow-sense heritability i.e., the proportion of phenotypic variation due to additive genetic values, using GRM, kinship or IBS matrix. |
Segregation analysis |
|
| --segreg | Perfom comingling analysis (by default) or segregation analysis (when a parameter file is given with --par option). |
Linkage analysis
| Name | Description |
Model-based, two-point |
|
| --lodlink | Compute LOD score and recombination fraction between a marker and trait and perform linkage test. |
| --lodlinkLinkageTestOff | Do not perform linkage test, use with --lodlink option. |
| --lodlinkLinkageHomogOff | Perform linkage test not assuming linkage homogeneity, use with --lodlink option. |
| --lodlinkLinkageSexSpecific | Perform linkage test using sex-specific recombination fraction, use with --lodlink option. |
| --lodlinkSmithHomogTest | Perform Smith's test for linkage homogeneity, use with --lodlink option. |
Model-free, multipoint |
|
| --merlin | Compute Zscore, p-value assuming normal approximation, Kong and Cox delta, K&C LOD score and K&C p-value. |
Association analysis
| Name | Description |
Single variant |
|
| --regression | Perform regression test. |
| --scoretest | Perform score test. |
| --tdt | Perform transmission/disequilibrium test. |
| --sdt | Perform sib transmission/disequilibrium test. |
| --mqls | Perform more powerful quasi-likelihood score (MQLS) test. |
| --fqls | Perform an extended MQLS test for ascertained families. |
| --prevalence | Specify the prevalence value to be used in the analysis, use with --fqls option. |
| --heri | Specify the heritability value to be used in the analysis, use with --fqls option. |
| --gemma | Perform linear mixed model test. |
| --multifqls | Perform an extended MQLS test for multiple traits. |
Gene-based (related/family samples) |
|
| --genesummary | Generate gene-wise summary. |
| --genetest | Perform test by combined multivariate and collapsing (CMC) method. |
| --pedcmc | Perform test by an extended CMC method for family data, use with --genetest option. |
| --famvt | Perform test by an extended variable threshold method for family data, use with --genetest option. |
| --skat | Perform SNP-set (sequence) kernel association test (SKAT), use with --genetest option. |
| --skato | Perform an extension of SKAT, optimal SKAT, use with --genetest option. |
| --farvat | Perform a family-based rare variant association test (FARVAT), an extended MQLS test for rare variants, use with --genetest option. |
| --pedgene | Perform test by collapsing and kernel methods, use with --genetest option. |
| --farvatx | Perform an extended FARVAT for X chromosome, use with --genetest option. |
| --mfarvat | Perform an extended FARVAT for multiple traits, use with --genetest option. |
| --fbskat | Perform FB-SKAT for binary trait. |
| --rvtdt | Perform rv-TDT for binary trait. |
Gene-based (unrelated/independent samples) |
|
| --genesummary | Generate gene-wise summary. |
| --genetest --indep | Perform test by combined multivariate and collapsing (CMC) method. |
| --vt --indep | Perform test by an variable threshold, use with --genetest option. |
| --skat --indep | Perform SNP-set (sequence) kernel association test (SKAT), use with --genetest option. |
| --skato --indep | Perform an extension of SKAT, optimal SKAT, use with --genetest option. |
| --kbac --indep | Perform test by the kernel-based adaptive cluster method, use with --genetest option. |
Epistasis analysis
| Name | Description |
MDR-related options |
|
| --order <integer> | Set order of combinations to investigate SNP-SNP interaction. In default, only the first order will be investigated. |
| --measure <string> | Set a measure to sort the results. This option will affect only if --top is assigned.In default, Balanced Accuracy (ba) will be used. Currently available parameters are: ba. |
| --top <integer> | Reports only top K results with largest measure (BA in default). Without this option, all combinations will be reported. |
MDR analyses |
|
| --mdr | Perform Multidimensional Dimensionality Reduction (MDR) analysis to investigate SNP-SNP interactions. This option is only applicable to binary phenotype. |
| --gmdr | Perform Generalized MDR analysis. Unlike MDR, this analysis can be applied to both binary and continuous phenotype, and is able to adjust covariates. |
| --cname <string[(,string)+]> | Specify the name of covariate(s) for a run, use with --pheno option. |
Data management
| Name | Description |
VCF specific filterings |
|
| --filqual <integer> | Exclude variants from the analysis when its QUAL field value is within the given criteria. |
| --incqual <integer> | Include variants to the analysis when its QUAL field value is within the given criteria. |
| --vcfqc | Include variants to the analysis when its FILTER field value is PASS. |
| --phasedonly | Include only phased genotypes to the analysis. |
| --unphasedonly | Include only unphased genotypes to the analysis. |
Variant filterings |
|
| --remvariant <list_or_path> | Exclude matching variants from the analysis. |
| --selvariant <list_or_path> | Include matching variants to the analysis. |
| --filmaf <range> | Exclude variants from the analysis when its Minor Allele Frequency (MAF) is within the given criteria. |
| --incmaf <range> | Include variants to the analysis when its Minor Allele Frequency (MAF) is within the given criteria. |
| --filmac <range> | Exclude variants from the analysis when its Minor Allele Count (MAC) is within the given criteria. |
| --incmac <range> | Include variants to the analysis when its Minor Allele Count (MAC) is within the given criteria. |
| --filgvar <range> | Exclude variants from the analysis when its genotype calling rate is within the given criteria. |
| --incgvar <range> | Include variants to the analysis when its genotype calling rate is within the given criteria. |
| --filhwe <range> | Exclude variants from the analysis when its p-value of Hardy-Weinberg Equilibrium (HWE) test is within the given criteria. |
| --inchwe <range> | Include variants to the analysis when its p-value of Hardy-Weinberg Equilibrium (HWE) test is within the given criteria. |
| --filmendelvar <range> | Exclude variants from the analysis if overall Mendelian error rate of a variant within the given condition. |
| --incmendelvar <range> | Include variants from the analysis if overall Mendelian error rate of a variant within the given condition. |
| --incmistest <range> | Include variants to the analysis when its p-value of missingness test is within the given range. |
| --filmistest <range> | Exclude variants from the analysis when its p-value of missingness test is within the given range. |
| --filrange | Exclude variants from the analysis when its physical position is within the given range. |
| --incrange | Include variants to the analysis when its physical position is within the given range. |
| --autoonly | Include only autosomal variants to the analysis. |
| --sexonly | Include only sex-chromosome variants to the analysis. |
| --chr | Include variants on the specified chromosomes to the analysis. |
| --snvonly | Include only Single Nucleotide Variants (SNVs) to the analysis. |
| --indelonly | Include only insertions and deletions to the analysis. |
Sample filterings |
|
| --remsamp <list_or_path> | Exclude matching samples from the analysis. |
| --selsamp <list_or_path> | Include matching samples to the analysis. |
| --remfam <list_or_path> | Exclude matching families from the analysis. |
| --selfam <list_or_path> | Include matching families to the analysis. |
| --filgind <range> | Exclude samples from the analysis when its genotype calling rate is within the given criteria. |
| --incgind <range> | Include samples to the analysis when its genotype calling rate is within the given criteria. |
| --filmispheno | Exclude samples from the analysis when its primary phenotype is missing. |
| --filcase | Exclude samples from the analysis when its primary phenotype is binary and its response is case(or affected). |
| --filcontrol | Exclude samples from the analysis when its primary phenotype is binary and its response is control(or unaffected). |
| --filmendelfam <range> | Exclude all samples in the specific family from the analysis if overall Mendelian error rate of a family within the given condition. |
| --incmendelfam <range> | Include all samples in the specific family from the analysis if overall Mendelian error rate of a family within the given condition. |
| --filmendelsamp <range> | Exclude samples from the analysis if overall Mendelian error rate of a sample within the given condition. |
| --incmendelsamp <range> | Include samples from the analysis if overall Mendelian error rate of a sample within the given condition. |
| --sampresize <0~1> | Randomly resize the number of samples into the given proportion. |
| --sampresize <integer> | Randomly resize the number of samples into the given number. |
| --filmale | Exclude samples from the analysis when its gender is male. |
| --filfemale | Exclude samples from the analysis when its gender is female. |
| --filnosex | Exclude samples from the analysis when its gender is unknown(not male nor female). |
| --filmf | Filtering out "missing founders". When a sample is nonfounder but both parents are lacked in the dataset, both parents are regarded as "missing founders" and the sample will be treated as founder with --filmf. |
| --filnf | Exclude all nonfounders from the analysis. |
| --incsample <expression> | Include samples to the analysis when the given conditions are satisfied. |
| --filmispheno <expression> | Exclude samples from the analysis when the given conditions are satisfied. |
LD-based prunings |
|
| --prunevif <window_size>,<step_size>,<vif_threshold> | Perform VIF-based LD pruning for VIF > <vif_threshold>, with <window_size> by stepping <step_size> variants |
| --prunepw <window_size>,<step_size>,<r2_threshold> | Perform pairwise r^2-based LD pruning for r^2 > <r2_threshold>, with <window_size> by stepping <step_size> variants |