FamRvTest command
Useful Pages
Overview of Options
Options:
Kinship Options : --kinGeno, --kinPedigree, --kinFile [], --kinSave, --kinMaf [0.05], --kinMiss [0.05] Input/Output Options : --ped [], --dat [], --vcf [], --noeof, --groupFile [], --longOutput [ON], --prefix [] VC Options : --inverseNormal, --useCovariates, --traitName [] Single Variant Tests : --SingleVarScore Burden Tests : --burden, --MB, --VT, --SKAT_BETA, --SKAT_UW, --SKAT_MB Other Options : --freqFile [], --annotation [], --maf [0.05], --miss [0.05], --simulate, --dosage, --founderFreq PhoneHome : --noPhoneHome, --phoneHomeThinning [100]
Kinship Options
--kinGeno: kinship matrix is estimated from genotype --kinPedigree: kinship matrix is estimated from pedigree structure --kinFile: kinship matrix is read from a file --kinMaf: the maf cutoff for markers used to estimate kinship --kinMiss: the genotype call rate cutoff for markers included to estimate kinship
Input/Output Options
--ped: merlin format ped file. --dat: merlin format dat file. --vcf: vcf file --groupFile: gene group file for gene level tests --longOutput: [ON/OFF] turning this option on will include single variants results in gene-level results report also. --prefix: output file prefix
VC options
--inverseNormal: trait will be inverse normalized before analysis --useCovariates: covariates saved in ped file will be adjusted --traitName: a specified trait that needs to be analyzed. If not specified, then all traits will be analyzed.
Single Variant Tests
--SingleVarScore: the score test
Burden Tests
--burden: the unweighted burden test --MB: the Madsen-Browning weighted burden test --VT: the variable threshold test --SKAT_BETA: the beta density weighted SKAT test (the original test) --SKAT_UW: the unweighted SKAT test --SKAT_MB: the Madsen-Browning weighted SKAT test
Other Options
--freqFile []: allow users to enter frequency of markers from a file --annotation: allow users to group variants based on annotation --maf: maf cutoff for markers to be grouped for gene-level tests --miss: the genotype calling missing rate filter before grouping variants for gene-level tests --simulate: allows an integer for number of permutations requested in single variant score test --dosage: the flag to tell use dosage saved in VCF file, instead of genotype --founderFreq: use founder frequencies for grouping and weighting