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.
Clinical analysis classification
OpenCGA provides two types of clinical analysis depending on the outcome:
Analysis that return a clinical analysis interpretation. An interpretation consists of two lists of reported variants (one for primary findings, and one for secondary findings), a list of panels and the low-coverage regions for that panel genes. OpenCGA implements different interpretation analysis for rare disease and cancer.