#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 \ #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 \ --vcf-filter-in PASS \ --seq-qual 50 \ --seq-mq 20 \ --seq-sb 0 \ --min-obsa 1 \ --min-obsu 1 \ #Filtering and Prioritization --genotype-filter 3,4,5,6 \ --ibs-case-filter 1000 \ --db-gene refgene \ --gene-feature-in 0,1,2,3,4,5 \ --db-filter hg19_1kg201204,hg19_dbsnp137,hg19_ESP6500AA,hg19_ESP6500EA \ --db-filter-hard dbsnp138nf --rare-allele-freq 0.006 \ --db-score dbnsfp \ --filter-nondisease-variant \ --regions-out chrX,chrY \ #Annotation --genome-anot \ --candi-list ECEL1,MYBPC1,TNNI2,TNNT3,TPM2 \ --pubmed-mining Arthrogryposis,Arthrogryposis+multiplex+congenita \ --pathway-annot cura \ --ppi-annot string \ --ppi-depth 1 \