Variantanalys
Variantanalys is the process of identifying, annotating and interpreting genetic variants discovered through DNA sequencing to determine their potential impact on phenotype or disease. It encompasses data processing, evidence gathering and clinical or research interpretation to inform decisions or hypotheses.
Typical data sources are whole-genome sequencing, whole-exome sequencing, or targeted gene panels. The workflow includes read
Annotation assigns biological context to each variant by linking it to genes, regulatory elements and known
Applications include clinical diagnostics and prognosis, pharmacogenomics, and research into disease mechanisms. In clinical practice, variantanalys
Challenges include handling variants of uncertain significance, biases from limited population diversity, data privacy, and the
Common tools and formats used in variantanalys include alignment and variant-calling pipelines (for example, BWA, GATK,