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

GATK reported a deletion as a homozygous while the same deletion is shown heterozygous in IGV.

$
0
0

I am using GATK version 3.7 and following best practice pipeline as recommended for cohorts analysis. I have called variants using HaplotypeCaller joint genotyping with default parameters from 70 samples. When I went through individual samples I found that the same deletion reported by GATK HaplotypeCaller as homogzygous (1/1:0,14:14) with DP of 14 is shown as heterozygous (0/1:5,8:13) with DP of 13 in IGV. As shown in the picture, Ref bases are GGGCG.

Kindly give your valuable comment on this, Thanks.


Viewing all articles
Browse latest Browse all 12345

Trending Articles



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