Comments (1)
sigven
commented on May 29, 2024
Hi Aidan,
Untuitively this sounds very much like unexpected behaviour, ideally i'd like to have your test data to debug, if that's possible at all? Just for clarification, is it so that some of the biomarker variants reported are not shown among the classified variants at all (i.e. for which genes)? I believe the present version only considers ClinVar-classified variants for the biomarker mapping, since these are most confident classifications, that might be parts of the explanation, but I'd really like to understand more what's going on.
best,
Sigve
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