Cargando…
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical interpretations that are scientifically sound and medically relevant. Many disease associations, especially those reported before the completion of the HGP, are limited in applicability because of potenti...
| Autores principales: | , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2011
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051330/ https://www.ncbi.nlm.nih.gov/pubmed/21258063 http://dx.doi.org/10.1093/bioinformatics/btr029 |