ProtVar: mapping and contextualizing human missense variation.

ABSTRACT: Genomic variation can impact normal biological function in complex ways and so understanding variant effects requires a broad range of data to be coherently assimilated. Whilst the volume of human variant data and relevant annotations has increased, the corresponding increase in the breadth of participating fields, standards and versioning mean that moving between genomic, coding, protein and structure positions is increasingly complex. In turn this makes investigating variants in diverse formats and assimilating annotations from different resources challenging. ProtVar addresses these issues to facilitate the contextualization and interpretation of human missense variation with unparalleled flexibility and ease of accessibility for use by the broadest range of researchers. By precalculati

SUBMITTER: Stephenson JD 

PROVIDER: S-EPMC11223857 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature