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 reported event is 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.

Rare Disease

Cancer