accurate annotation of MNVs

[boschann]

Dear CUBI-team,
apparently there is a "new" definition of MNVs/DelIns:
"the SVD-WG is preparing a proposal to modify this recommendation. To apply the current rule one needs to know whether the two variants are in a coding sequence and affecting one amino acid. Recommendations should be general. The new recommendation will be: two variants separated by less then two nucleotides should be described as a “delins”
http://varnomen.hgvs.org/recommendations/DNA/variant/delins/

Two more recently published papers that highlight the importance of accurate MNV detection and annoation:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957021/
https://www.nature.com/articles/s41467-019-12438-5

Best regards
Felix

[holtgrewe]

That's a good point. It has to be done in varfish-annotator and the underlying jannovar library, though.