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ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden
BACKGROUND: Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassification is abating as these databases rapidly grow and implement new guidelines. ME...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10347827/ https://www.ncbi.nlm.nih.gov/pubmed/37443081 http://dx.doi.org/10.1186/s13073-023-01199-y |