Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

PURPOSE: The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific ACMG/AMP guidelines, the Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in variant interpretation. METHODS: A...

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Detalles Bibliográficos
Autores principales: Patel, Mayher J, DiStefano, Marina T, Oza, Andrea M, Hughes, Madeline Y, Wilcox, Emma H, Hemphill, Sarah E, Cushman, Brandon J, Grant, Andrew R, Siegert, Rebecca K, Shen, Jun, Chapin, Alex, Boczek, Nicole J, Schimmenti, Lisa A, Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T, Avraham, Karen B, Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L, Amr, Sami S, Tayoun, Ahmad N Abou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8556313/
https://www.ncbi.nlm.nih.gov/pubmed/34230634
http://dx.doi.org/10.1038/s41436-021-01254-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8556313/
https://www.ncbi.nlm.nih.gov/pubmed/34230634
http://dx.doi.org/10.1038/s41436-021-01254-2

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