Available ONETOOL options

 

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