Research variant annotation vs clinical interpretation
Variant annotation connects genomic coordinates to reference data and evidence. Clinical interpretation is a separate governed process requiring current sources, validated methods and qualified review.
01
Annotation organises evidence
Tools can add genes, predicted consequences, population frequencies and database identifiers to candidate records.
02
Evidence changes
Database assertions, transcript definitions and classification criteria are versioned. Record the reference build, source version and retrieval date.
03
Clinical claims require governance
A research interface cannot establish pathogenicity, diagnosis or treatment. Confirmatory testing and qualified clinical review remain essential.
