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serge2016 avatar serge2016 commented on August 13, 2024
# GRCh38.d1.vd1)
# https://gdc.cancer.gov/about-data/data-harmonization-and-generation/gdc-reference-files
refGenomeURL="https://api.gdc.cancer.gov/data/254f697d-310d-4d7d-a27b-27fbf767a834" # GRCh38.d1.vd1.fa.tar.gz
refGenomeFN0="GRCh38.d1.vd1.fa.tar.gz"
refGenomeFN="${refGenomeFN0%.tar.gz}"
refGenomeV="${refGenomeFN%.*}"

refGenomeFile="$REFDIR/$refGenomeV/$refGenomeFN"
refGenomeDir="$(dirname "$refGenomeFile")"
refGenomeFaiFile="${refGenomeFile}.fai"
refGenomeDictFile="${refGenomeFile%.*}.dict"

runDir="$(pwd)"
cnvkitRefDir="$runDir/$refGenomeV"
accessFile="$cnvkitRefDir/$GENOMEBUILD.bed"
mkdir -p "$runDir" "$cnvkitRefDir"

if [[ ! -s "$accessFile" ]]; then
    $CNVKIT access $refGenomeFile -o $accessFile
fi

from cnvkit.

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