gustaveroussy / bigr_long-reads_bulk

Long-reads Bulk DNA-seq pipeline
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test clair3 SwitchZygosityBasedOnSVCalls #2

Open tomgutman opened 1 month ago

tomgutman commented 1 month ago

In the Clair 3, they suggest to use SwitchZygosityBasedOnSVCalls script. This script takes a Clair3 VCF and a Sniffle2 VCF as inputs. It switches the zygosity from homozygous to heterozygous of a Clair3 called SNP that matches the following two criteria: 1) AF<=0.7, and 2) the flanking 16bp of the SNP is inside one or more SV deletions given in the Sniffle2 VCF.

https://github.com/HKU-BAL/Clair3

It might be interesting to test it and maybe to implement in a following version of this pipeline