Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

BACKGROUND: The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for “well-established” functional as...

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Detalles Bibliográficos
Autores principales: Brnich, Sarah E., Abou Tayoun, Ahmad N., Couch, Fergus J., Cutting, Garry R., Greenblatt, Marc S., Heinen, Christopher D., Kanavy, Dona M., Luo, Xi, McNulty, Shannon M., Starita, Lea M., Tavtigian, Sean V., Wright, Matt W., Harrison, Steven M., Biesecker, Leslie G., Berg, Jonathan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Guideline
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938631/
https://www.ncbi.nlm.nih.gov/pubmed/31892348
http://dx.doi.org/10.1186/s13073-019-0690-2

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