Intro to Clinical Applications
Key concepts
- Clinical interpretation of variants, variant interpretation types (predisposing, predictive, predisposing, diagnostic), variant interpretation guidelines, clinical applications of passenger somatic variants (early detection, minimal residual disease tracking, personalized vaccines).
Learning objectives:
- Prioritize germline variants to identify putative de novo and clinically relevant mutations
- Germline pathogenicity assessment (demonstrate concepts with some example variants using ClinGen Variant Curation Interface)
- Biological function or oncogenicity (demonstrate concepts by uploading a filtered VCF into CRAVAT)
- Somatic clinical actionability (demonstrate concepts with some example variants using CIViC)
- Variant interpretation using (Exomiser)[https://www.sanger.ac.uk/science/tools/exomiser]
- Literature mining tools such as (Mastermind)[https://mastermind.genomenon.com]
Lecture
