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 reported events or evidences. An each reported event classifies the variant according to it tier, ACGM value, clinical significance, drug response, trait association and functional effect.


DrugResponse drugResponse;

private TraitAssociation traitAssociation;

private FunctionalEffect functionalEffect;

private Tumorigenesis tumorigenesis;

Rare Disease


Cancer




This is only available in the Enterprise Edition


Table of Contents:


Useful Links