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Published 20 hours ago • verified publisher icon phenopackets

Variant representation

Open pnrobinson opened this issue 8 years ago • 11 comments

We should discuss how to best represent variants. Probably we need something flexible like HGVS NM_123:c.-123C>T with various types that also work for chromosomes, microdeletions, and other sets of findings that might be protein biomarkers etc, so that this standard can be used with a wide range of diseases and publications.

pnrobinson avatar Nov 12 '15 07:11 pnrobinson