README instructions
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## Script Options:
## Required:
## -o Output file name [required] ***Name only, not PATH***
## -v path to the VCF to annotate [required]
## Optional:
## -c path to catalog file
## -d Path to the drill file
## -h Display this usage/help text
## -j job name for qsub command
## -l set logging
## -L Do not add links to VCF [default is set to TRUE]
## -M memory info file from GGPS
## -n Number of lines to split the data into [default:20000]
## -O output directory [cwd]
## -s Flag to turn on SNPEFF
## -a Flag to turn off CAVA annotation
## -Q queue override (e.g. 1-day) [defaults to what is in the tool_info]
## -t Export table as well as VCF [1]
## Version 1: Seperate columns for Depth, GQ, AD, and GT per sample
## Version 2: First N columns like VCF, one colulmn containing sample names
## -T tool info file from GGPS
## -x path to temp directory [default: cwd]
## -z specify yes or no to describe whether the final VCF should be compressed [default: yes]
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## Clinical specific options (DLMP use only)
## -P PEDIGREE file (for trios only, this will add extra annotations)
## -g GENE list (only used with pedigrees)
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Examples:
cat catalog_file
Clinvar bior_same_variant /data5/bsi/epibreast/m087494.couch/Reference_Data/ClinVar/Clinvar.tsv.bgz
HPO bior_overlap /data5/bsi/catalogs/user/v1/gene_ontology/HPO/2014_10_21/HPO_Gene_w_coordinates.catalog.gz
ExAC bior_same_variant /data5/bsi/catalogs/user/v1/ExAc/2014_10_22/ExAC.r0.1.catalog.gz
...
Note: column 1 is the ShortUniqueName in the *datasource.properties file for that catalog
column 2 is what bior command you wish to run [e.g. overlap or same variant]
column 3 is the path to the catalog
The name in the catalog_file must match the name in the drill_file EXACTLY
cat drill_file
Clinvar RCVaccession,ReviewStatus,ClinicalSignificance,OtherIDs,Guidelines
HPO HPO-term-name
ExAC Info.AC,Info.AN,Info.AF,Info.AC_Het,AC_Hom
...
Note: column 1 is the ShortUniqueName in the *datasource.properties file for that catalog
column 2 is what features you want to drill out of that catalog
The name in the drill_file must match the name in the catalog_file EXACTLY