Created
March 11, 2015 21:00
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compare different variant normalization methods
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set -eo pipefail | |
REF=human_g1k_v37_decoy.fasta | |
VCF=Mills_and_1000G_gold_standard.indels.b37.vcf.gz | |
VCF=/usr/local/src/gemini/test/test.mult-alts.fb.vep.vcf.gz | |
java -Xmx4G -jar /usr/local/src/gatk/GenomeAnalysisTK.jar -T LeftAlignAndTrimVariants --splitMultiallelics --trimAlleles \ | |
-R $REF \ | |
--variant $VCF -o gatk.norm.vcf | |
vt decompose $VCF | vt normalize -r $REF - > vt.norm.vcf | |
python /usr/local/src/gemini/gemini/vcfutils.py $VCF $REF > gemini.norm.vcf | |
grep -cv '#' *.norm.vcf | |
# all come out sorted in this case. | |
for v in *.norm.vcf; do bgzip -f $v && tabix ${v}.gz; done | |
paste <(zless vt.norm.vcf.gz | grep -v '^#' | cut -f -5 | sort -k2,2n -k4,5) \ | |
<(zless gemini.norm.vcf.gz | grep -v '^#' | cut -f -5 | sort -k2,2n -k4,5) \ | |
| awk '$4 != $9 || $5 != $10 || $2 != $7' | wc -l | |
paste <(zless gatk.norm.vcf.gz | grep -v '^#' | cut -f -5 | sort -k2,2n -k4,5) \ | |
<(zless gemini.norm.vcf.gz | grep -v '^#' | cut -f -5 | sort -k2,2n -k4,5) \ | |
| awk '$4 != $9 || $5 != $10 || $2 != $7' | wc -l | |
# compare the genotype cols | |
paste <(zless vt.norm.vcf.gz | grep -v '^#' | sort -k2,2n -k4,5 | cut -f 9-11) \ | |
<(zless gatk.norm.vcf.gz | grep -v '^#' | sort -k2,2n -k4,5 | cut -f 9-11) \ | |
<(zless gemini.norm.vcf.gz | grep -v '^#' | sort -k2,2n -k4,5 | cut -f 9-11) \ | |
| less |
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