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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.
OpenCGA provides two types of clinical analysis depending on the outcome:
- Analysis that return a list of reported variants:
- Analysis that return a clinical analysis interpretation:
- Tiering interpretation analysis based on GEL tiering algorithm
- Cancer interpretation analysis based on GEL cancer tiering algorithm.
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