Clinical interpretation of non coding variants

[arpaddanos]

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

Required Knowledge

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

[Laveniya]

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

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