Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

BACKGROUND: The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant classification. These guidelines...

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Detalles Bibliográficos
Autores principales: Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884856/
https://www.ncbi.nlm.nih.gov/pubmed/31783775
http://dx.doi.org/10.1186/s13073-019-0683-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884856/
https://www.ncbi.nlm.nih.gov/pubmed/31783775
http://dx.doi.org/10.1186/s13073-019-0683-1

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