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...

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Detalles Bibliográficos
Autores principales: Sharo, Andrew G., Zou, Yangyun, Adhikari, Aashish N., Brenner, Steven E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
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

Internet

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

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