annotate examples/param.rare.disease.hg19.txt @ 5:ed0dbb61f0e1 draft

planemo upload

#one argument per line
#I.Environmental setting
--buildver hg19 \ \ #line 1
--nt 4 \ \ #line 2
#--no-lib-check \ #line 3
#--no-resource-check \ \ #line 4

#II. Specify the input files
--vcf-file examples/rare.disease.hg19.vcf \ #line 5
--ped-file examples/rare.disease.ped.txt \ #line 6, or specify --indiv-pheno X:1,Y:1,Z:2

#III. Output setting
--out ./test1 \ #line 7
--excel \ #line 8
--o-vcf \ #line 10
#--o-flanking-seq 50 \ #line 11, need large RAM memory

#IV. QC
--gty-qual 10 \ #line 12
--gty-dp 4 \ #line 13
--gty-af-ref 0.05 \ #line 14
--gty-af-het 0.25 \ #line 15
--vcf-filter-in PASS,VQSRTrancheSNP90.00to93.00,VQSRTrancheSNP93.00to95.00,VQSRTrancheSNP95.00to97.00,VQSRTrancheSNP97.00to99.00 \ #line 16
--seq-qual 50 \ #line 17
--seq-mq 20 \ #line 18
--seq-fs 60 \ #line 19
--min-obsa 1 \ #line 20
#V. Filtering
 
--genotype-filter 1,2,6 \ #line 22 for recessive mode
#--ibs-case-filter 1000 \ #line 23, or specify 'ibdregions.txt' file
--regions-out chrX,chrY \ #line 22
--db-filter 1kg201204,dbsnp141,ESP6500AA,ESP6500EA \ #line 26
--rare-allele-freq 0.006 \ #line 27
--db-filter-hard dbsnp138nf \ #line 27
--db-gene refgene,gencode,knowngene \ #line 24
--gene-feature-in 0,1,2,3,4,5,6 \ #line 25
--superdup-filter \
--gene-var-filter 4

#VI. Annotation 
--scsnv-annot \#line 31
--dgv-cnv-annot --candi-list ECEL1,MYBPC1,TNNI2,TNNT3,TPM2 \#line 31
--geneset-annot cura \ #line 33
--ppi-annot string \ #line 34
--ppi-depth 1 \ #line 35
--phenotype-term Arthrogryposis,Arthrogryposis+multiplex+congenita \ #line 35
--pubmed-mining

#VII. Prediction at variants 
--db-score dbnsfp \ #line 28 
--mendel-causing-predict all
--filter-nondisease-variant \ #line 29

#VIII. Prediction at genes 
--patho-gene-predict 
#--phenolyzer-prediction