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griffithlab / civic-meeting

Repo for advertising and organizing CIViC unconference/meeting activities
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Curating the non-coding genome #52

Closed mccoymd closed 1 year ago

mccoymd commented 2 years ago

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?

13073_2022_1073_Fig1_HTML

mccoymd commented 2 years 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.

malachig commented 1 year ago

Resolving in preparation for the 2023 hackathon/jamboree.