Quantcast
Channel: Recent Discussions — GATK-Forum
Viewing all articles
Browse latest Browse all 12345

Variant in VCF of multiple samples called by HaplotypeCaller absent in their respective BAM files

$
0
0

Hello GATK team,

I followed GATK best practices and called variants with haplotypecaller in 6 exome samples. However, in 4 patients (total) I have a variant on Chr12 that is absent in the BAM file. the variant is a big deletion (bigger than 10 nucleotides) and ONLY in one read of one of the samples I can see the variant. I'm confused about what has happened here. Can you please explain how can a variant be called while not present in the BAM?


Viewing all articles
Browse latest Browse all 12345

Trending Articles



<script src="https://jsc.adskeeper.com/r/s/rssing.com.1596347.js" async> </script>