Article
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
Human mutation - 1 Jan 2018
Freeman Peter J, Hart Reece K, Gretton Liam J, Brookes Anthony J, Dalgleish Raymond
Abstract excerpt
The Human Genome Variation Society (HGVS) variant nomenclature is widely used to describe sequence variants in scientific publications, clinical reports, and databases. However, the HGVS recommendations are complex and this often results in inaccurate variant descriptions being reported. The open-source hgvs Python package (https://github.com/biocommons/hgvs) provides a programmatic interface for parsing,...
Topics
- Chromosome Mapping
- Computational Biology
- Databases, Genetic
- Exons
- Genetic Variation
- Humans
- Introns
- Reproducibility of Results
- Sequence Analysis, DNA
- Software
- User-Computer Interface