8 weeks · 0 milestones
Interpret real genetic data from a named publicly available source: annotate a set of variants using ClinVar and Ensembl Variant Effect Predictor (VEP — free), interpret a GWAS result from a published study by tracing a named variant through the statistical and functional evidence, or analyse sequencing results for a named genetic question using published population data. Document the evidence base for each interpretation claim: variant frequency, functional consequence predictions, clinical significance classifications, and limitations of the evidence. Reviewed by a geneticist or bioinformatician who presents an unseen variant of uncertain significance during the review session and asks you to classify it and justify the classification using ACMG/AMP variant interpretation criteria — requiring real-time reasoning about evidence quality, not recall of known variant classifications. All data sources and annotation tools are freely accessible.