Medical Genetics
Clinical interpretation of genetic variation, ACMG criteria, and rare disease diagnostics.
Medical Genetics addresses clinical interpretation of genetic variation, acmg criteria, and rare disease diagnostics. As a subfield of human genetics, it sits within the broader biology branch of the Charted science tree and connects upward to the methodological themes of its parent area.
A more detailed frontier sourcing pass for this topic is deferred to a follow-up OpenAlex wave; the current sources include Strachan, Human Molecular Genetics, each kept as a placeholder anchor for the next iteration. See the parent topic (biology/genetics-and-genomics/human-genetics) for the wider context this page will eventually slot into.
Prerequisites
Sources
- textbook · primary · 2018Human Molecular Geneticsstrachan-2018, read-andrew-2018
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