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More careful whitelisting of known somatic variants

Open ckandoth opened this issue 7 years ago • 2 comments

The current gist to download the ExAC VCF and whitelist known somatic events, will also inadvertently whitelist indels that overlap these known somatic events. Fixing this will take some work. This is a low priority now.

ckandoth avatar Dec 08 '16 02:12 ckandoth

To fix this, the hotspots events need to be in VCF format, but the downside is that we miss novel ALT alleles at known hotspot loci. Tough tradeoff.

ckandoth avatar May 08 '17 17:05 ckandoth

All the hotspots and allele changes observed in a MAF-like format here - https://github.com/mskcc/ngs-filters/blob/master/data/hotspot-list-union-v1-v2.txt

ckandoth avatar Feb 27 '18 20:02 ckandoth