From: CVE: an R package for interactive variant prioritisation in precision oncology
Annotation category | Resource | Comments |
---|---|---|
Genomic | GENCODE | Variant classification and mapping to gene |
 | Human DNA Repair Genes | Curated list from [40] |
Protein | UniProt | Protein-specific annotation |
 | dbNSFP | Conservation and prediction scores |
Cancer variant | COSMIC | Catalogue of Somatic Mutations in Cancer |
Non-cancer variant | 1000 Genomes Project | Germline SNVs |