Genetics

2 entries
  1. Mapping My COL6A3 Variant: What Nearby Mutations Reveal

    Exploring collagen VI architecture, mapping nearby genetic variants, and investigating what the literature and protein structure tell us about my mutation.

    Genetics / Computational Biology
  2. Using AlphaGenome to Investigate My Own Genetic Mutation

    Using AlphaFold, AlphaMissense and AlphaGenome to make a Variant of Uncertain Significance slightly less uncertain.

    Genetics / Computational Biology