griffithlab / civic-meeting

Repo for advertising and organizing CIViC unconference/meeting activities
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Clinical interpretation of non coding variants #62

Open arpaddanos opened 1 year ago

arpaddanos commented 1 year ago

Submitter Name

Arpad Danos

Submitter Affiliation

Washington University

Submitter Github Handle

arpaddanos

Additional Submitter Details

Staff Scientist at Griffith Lab

Project Details

Discussion of clinical interpretations and curation approaches for non coding variants. The following publication will be one of the sources drawn upon: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01073-3 noncoding

Required Knowledge

Some familiarity with basic genomics and any level of past experience with curation of clinically relevant variants.

Laveniya commented 2 months ago

https://civicdb.org/evidence/11445/summary

An example where the methylation profile was used, albeit under gene name / molecular profile.