Closed mccoymd closed 1 year ago
Some overlap with the structural variant representation... it would be good to understand what was lost/gained in a deletion/duplication event, and its clinical significance.
Resolving in preparation for the 2023 hackathon/jamboree.
A recent publication made recommendations for the curation of non-coding variants. https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01073-3
How do the germ-line recommendations apply to curation of somatic variants?