Tagged with #variant
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I have DNASeq data of an offspring "C" which is cross of parents "A" and "B". Reference genomes of both "A" and "B" are available. I am interested in getting the variants, which should be in the "A" homozygous region. I am confused which reference to use and how to proceed. Your advice will be very valuable. Thank you.

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Hi there, According to your experience, what do you suggest for calling variants in tumor samples (exome) - HaplotypeCaller or UnifiedGenotyper? Have you seen any (major or minor) difference with both the callers on same exome tumor samples? What's your advice. Do you have any reference publication(s) where HaplotypeCaller is used on tumor samples? Thanks Raj

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I want to know what's the best way to use VariantEval to get statistics for each sample in a multisample VCF file. If I call it like this: java -jar GenomeAnalysisTK.jar \ -R ucsc.hg19.fasta \ -T VariantEval \ -o multisample.eval.gatkreport \ --eval annotated.combined.vcf.gz \ --dbsnp dbsnp_137.hg19.vcf where annotated.combined.vcf.gz is a VCF file that contains ~1Mio variants for ~800 samples I get statistics for all samples combined, e.g.

#:GATKReport.v1.1:8 #:GATKTable:11:3:%s:%s:%s:%s:%s:%d:%d:%d:%.2f:%d:%.2f:; #:GATKTable:CompOverlap:The overlap between eval and comp sites CompOverlap CompRod EvalRod JexlExpression Novelty nEvalVariants ... CompOverlap dbsnp eval none all 471704 191147
CompOverlap dbsnp eval none known 280557 0 CompOverlap dbsnp eval none novel 191147 191147

But I would like to get one such entry per sample. Is there an easy way to do this?

Thanks, Thomas