Open nh13 opened 3 years ago
The current behavior is that any read will be counted towards the reference allele.
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 notifications@github.com wrote:
The current behavior is that any read will be counted towards the reference allele.
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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.
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