Cargando…
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
BACKGROUND: The use of a standard human sequence variant nomenclature is advocated by the Human Genome Variation Society in order to unambiguously describe genetic variants in databases and literature. There is a clear need for tools that allow the mining of data about human sequence variants and th...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2011
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194197/ https://www.ncbi.nlm.nih.gov/pubmed/21992071 http://dx.doi.org/10.1186/1471-2105-12-S4-S5 |