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Explictly warn/fail when an indel is encountered

Open nh13 opened this issue 4 years ago • 3 comments

Currently, on the first base in the ref/alt alleles are stored and compared, which can lead to misleading results if the input VCF has indels. See this line: https://github.com/statgen/demuxlet/blob/537ba9478b9bc0aa9d8898520ed03ef44564c7df/cmd_cram_demuxlet.cpp#L322

nh13 avatar Jan 20 '21 20:01 nh13

The current behavior is that any read will be counted towards the reference allele.

nh13 avatar Jan 20 '21 20:01 nh13

Hi Nils,

Thank you for bringing this up. Hyun may have some bandwidth to push a commit to fix this.

J

Sent from a phone. Excuse the typos.

On Jan 20, 2021, at 12:38 PM, Nils Homer [email protected] wrote:

 The current behavior is that any read will be counted towards the reference allele.

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yimmieg avatar Jan 20 '21 20:01 yimmieg

Excellent! I think the main issue is that it is comparing the first base in the allele, versus the full allele from the VCF and the bases starting at the mapped position the the read.

nh13 avatar Jan 20 '21 20:01 nh13