rasqual: RASQUAL (Robust Allele Specific Quantitation and quality controL) maps QTLs using population and AS signals for any sequenced based cellular tratis. Usage: VCF as stdin | ./rasqual [OPTIONS] -y -k -n -j \ -l <#tested_SNPs> -m <#feature_SNPs> -s -e Output: Tested SNPs in stdout and posterior genotype in VCF file Mandatory arguments: -y/--feature-counts File name of total feature counts in binary double -k/--sample-offsets File name of sample specific offset terms in binary double -s/--feature-starts Feature start position(s) in comma separated value (e.g., 100,300,500) -e/--feature-ends Feature end position(s) in comma separated value (e.g., 150,350,450) -j/--feature-id Row number of target feature in original count table -l/--number-of-testing-snps Number of testing SNPs in VCF (candidates of a rSNP) -m/--number-of-fsnps Number of feature SNPs (fSNPs) in VCF -n/--sample-size Sample size Output options: -t/--lead-snp Output only the lead QTL SNP -i/--imprint Output imprinted (or randomly allelicly inactivated) feature result -g/--posterior-genotype Output posterior genotypes as VCF format -f/--feature-name Feature name printed on the result (default: feature ID number) Test SNP (rSNP) filter options: -c/--cis-midpoint Midpoint of cis regulatory window, e.g., TSS (default: midpoint of feature start and end) -w/--cis-window-size Cis regulatory window size centered at the midpoint (default: 54e7) -a/--minor-allele-frequency Minor allele frequency cutoff (default: 0.05) -h/--hardy-weinberg-pvalue Hardy-Weinberg equiliblium P-value cutoff (default: 1.0e-8) -q/--imputation-quality Genome imputation quality score cutoff, e.g., R^2 (MaCH/Beagle) or I^2 (IMPUTE) (default: 0.7) --rsnp Test only specific SNP (variant ID given in the VCF file) fSNP filter options: --minor-allele-frequency-fsnp Minor allele frequency cutoff for fSNPs (default: 0.0) --hardy-weinberg-pvalue-fsnp Hardy-Weinberg equiliblium P-value cutoff for fSNPs (default: 0.0) --imputation-quality-fsnp Genome imputation quality score cutoff for fSNPs (default: 0.0) --min-coverage-depth Minimum depth to filter out low coverage fSNPs (default: 0.05) --effective-feature-length Effective length of feature to calculate average depth (default: length of union features) Model fitting options: -x/--covariates File name of covariates in bianary double -p/--number-of-covariates Number of covariates used for adjustment -r/--random-permutation Randomly permute samples -k2/--conditional-snps Conditional SNP(s) ID with effect size(s) connected by colon (:) (e.g., rs1:0.12,rs2:0.34) --population-only Only total feature counts are modelled --as-only Only AS counts are modelled --null Fitting null model only --force Fitting model for the large numbers of fSNPs and rSNPs (#fSNPs x #rSNPs < 30,000 w/o this option) --fix-delta Fix sequencing/mapping error parameter (Delta=0.01) --fix-phi Fix reference allele mapping parameter (Phi=0.5) --fix-theta Fix overdispersion parameter (Theta=10000) --number-of-significant-loci Average number of SNPs tested by joint model (default: number of tested SNPs) --n-threads The number of threads used for mapping QTLs in parallel Genotype uncertainty options: -z/--convert-imputation-score Convert genome imputation quality score (R^2 or I^2) into allelic probability (AP) --nominal-allelic-probability Use nomial AP (default: AP is truncated in [0.001, 0.999] to allow uncertainty) --genotype-dosage Use genotype dosage as AP --population-allele-frequency Use population allele frequency as AP --fix-genotype Use fix genotype (in GT field) --no-posterior-update Not updating posterior probability Other options: -v/-V Print verbose output (for debugging). Hyperparameter options (modification unrecomended): -SIGMA Variance parameter for Normal gamma distribution on Lambda (default: 10000) -BETA Mean parameter for Normal-gamma distribution on Lambda (default: sample mean) -ABPI Shape parameters (identical) for Beta distribution on Pi (default:10) -ABPHI Shape parameters (identical) for Beta distribution on Phi (default:10) -ADELTA 1st shape parameter for Beta distribution on Delta (default: 1.01) -BDELTA 2nd shape parameter for Beta distribution on Delta (default: 1.99) -KAPPA Shape parameter for Gamma distribution on Theta (default: 2.02) -OMEGA Rate parameter for Gamma distribution on Theta (default: 0.2) # # not implemented # -hetType # -trans #