variant annotation
The process of adding biological and clinical information to genetic variants identified through sequencing.
Full Definition
Variant annotation is the computational process of systematically adding relevant biological, functional, and clinical information to genetic variants identified through DNA sequencing. This process involves querying multiple databases and prediction algorithms to determine the potential impact of each variant on protein function, disease association, population frequency, and clinical actionability. Key annotation elements include gene function, protein domain effects, evolutionary conservation scores, population allele frequencies, clinical significance classifications, and drug response associations. In cancer genomics, variant annotation is crucial for distinguishing clinically relevant mutations from benign polymorphisms and for identifying therapeutic targets and resistance mechanisms.
Usage
Usage note: Often used interchangeably with variant interpretation in clinical contexts.
In Context
- "Comprehensive variant annotation revealed several actionable mutations in the tumor sample." — Bioinformatics report
- "The variant annotation pipeline incorporates over twenty clinical databases." — Laboratory methodology