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genhumanchr12variants.sh
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#!/bin/bash
#
# Generates simulated variants
#
. common.sh
FULL_JAR=~/bin/gridss-*-jar-with-dependencies.jar
#CX_REFERENCE=~/refdata/genomes/chr12.fa
CX_REFERENCE=~/reference_genomes/human/hg19.fa
CX_CHROMOSOME=chr12
CX_REFERENCE_VCF_PADDING=2500
# $1: name
# $2: sim
# $3: additional args
function sim() {
CX_REFERENCE_VCF_VARIANTS="$1"
cx_save
XC_OUTPUT=$CX.reference.fa
XC_SCRIPT="rm -rf $CX; mkdir $CX 2>/dev/null; cd $CX
java -Xmx7g -cp $FULL_JAR \
$2 \
CHR=$CX_CHROMOSOME \
PADDING=$CX_REFERENCE_VCF_PADDING \
REFERENCE=$CX_REFERENCE \
VCF=reference.vcf \
FASTA=reference.fa \
$3 &&
mv reference.vcf $CX.reference.vcf &&
mv reference.fa $CX.reference.fa
"
xc_exec
}
for VARIANT_TYPE in INS DEL DUP INV ; do
sim "het${VARIANT_TYPE}" au.edu.wehi.idsv.sim.GenerateSimpleVariants "\
INCLUDE_REFERENCE=true \
COPIES=500 \
TYPE=null TYPE=$VARIANT_TYPE \
"
done
sim "hetBP" au.edu.wehi.idsv.sim.GenerateChromothripsis "\
INCLUDE_REFERENCE=true \
FRAGMENT_SIZE=2000 \
FRAGMENTS=10000 \
"
sim "hetBP_SINE" au.edu.wehi.idsv.sim.GenerateChromothripsis "\
INCLUDE_REFERENCE=true \
FRAGMENT_SIZE=2000 \
FRAGMENTS=10000 \
RM=~/Papenfuss_lab/projects/reference_genomes/human/hg19/UCSC/repeatmasker/12/chr12.fa.out \
CLASS_FAMILY=SINE/Alu \
"
# sim "homBP" au.edu.wehi.idsv.sim.GenerateChromothripsis "\
# INCLUDE_REFERENCE=false \
# FRAGMENT_SIZE=2000 \
# FRAGMENTS=10000 \
# "
# sim "homBP_SINE" au.edu.wehi.idsv.sim.GenerateChromothripsis "\
# INCLUDE_REFERENCE=false \
# FRAGMENT_SIZE=2000 \
# FRAGMENTS=10000 \
# RM=~/Papenfuss_lab/projects/reference_genomes/human/hg19/UCSC/chromOut/12/chr12.fa.out \
# CLASS_FAMILY=SINE/Alu \
# "