variant curation
Systematic process of evaluating and classifying genetic variants for clinical significance and actionability.
Full Definition
The comprehensive evaluation and classification of genetic variants identified through genomic testing, involving assessment of population frequency, functional impact, clinical evidence, and therapeutic implications. Variant curation follows standardized guidelines and incorporates multiple lines of evidence including computational predictions, experimental studies, clinical observations, and literature review. This process is essential for translating raw genomic data into clinically meaningful information for patient care and treatment decisions.
Usage
Usage note: Emphasizes interpretive process rather than technical detection; distinguish from automated variant annotation.
In Context
- "The variant curation team classified the novel BRCA2 alteration as likely pathogenic based on functional and computational evidence." — Molecular genetics report
- "Standardized variant curation protocols ensure consistent interpretation across different laboratories and institutions." — Quality assurance document