#one argument per line #Enviromental setting --buildver hg19 \ --resource ./resources \ #Specify the input files --vcf-file examples/rare.disease.hg19.vcf \ --ped-file examples/rare.disease.ped.txt \ --composite-subject-id #Output setting --out ./test0808_1 \ --excel \ --o-seattleseq \ --o-vcf \ #--o-flanking-seq 50 \ #QC --gty-qual 10 \ --gty-dp 4 \ --gty-af-ref 0.05 \ --gty-af-alt 0.25 \ --disable-vcf-filter \ --seq-qual 50 \ --seq-mq 20 \ --seq-sb 0 \ --min-obsa 1 \ --min-obsu 1 \ #Filtering and Prioritization --genotype-filter 3 \ \ --ibs-check \ --db-gene refgene \ --gene-feature-in 0,1,2,3,4,5 \ --db-filter hg19_1kg201105,hg19_dbsnp131,hg19_ESP5400 \ --rare-allele-freq 0.006 \ --db-score dbnsfp \ --filter-nondisease-variant \ --regions-out chrX,chrY \ #Annotation --genome-anot \ --candi-list ATXN1,ATXN2,ATXN8OS,ATXN8,ATXN10,TTBK2 \ --pathway-annot cura \ --ppi-annot string \ --ppi-depth 1 \ --pubmed-mining Spinocerebellar+ataxia \