The goal of a clinical analysis is to identify, from millions of patient's variants, a few ones that may explain the disease. Once selected a few variants, they are classified according to a pathogenicity or clinical significance criteria.

For each selected variant, OpenCGA creates a reported variant that mainly, consists of a list of evidences (aka, reported events). The most important field in an OpenCGA  or evidences. An each reported event is classifies the variant classification that uses both the values of Tier-1, Tier-2 and Tier-3, and the ACGM guidelines to assign a clinical significance to each evidence.according to it tier, ACGM value, clinical significance, drug response, trait association and functional effect.

Rare Disease

Cancer