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Published 20 hours ago • verified publisher icon Illumina

variant position in repeats

Open cariaso opened this issue 3 years ago • 0 comments

https://github.com/KarchinLab/open-cravat/issues/64 is a specific real world case of a variant within a TG repeat, where the lack of standard positioning across all tools and databases seems to cause a problem.

Does strelka enforce some policy on correct positioning? (5'? 3'? best effort or guaranteed?) What are your views on the ability and desirability of standardization across different tools?

cariaso avatar Apr 20 '21 05:04 cariaso