Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Due to the high genetic heterogeneity of hearing loss, current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Murry, Jaclyn B., Hasadsri, Linda, Nara, Kiyomitsu, Kenna, Margaret, Booth, Kevin T., Azaiez, Hela, Griffith, Andrew, Avraham, Karen B., Kremer, Hannie, Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou
Format: Artigo
Jezik:Inglês
Izdano: 2018
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6188673/
https://ncbi.nlm.nih.gov/pubmed/30311386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23630
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