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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Bibliographic Details
Published in:Genome Med
Main Authors: Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.
Format: Artigo
Language:Inglês
Published: BioMed Central 2019
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Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6884856/
https://ncbi.nlm.nih.gov/pubmed/31783775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0683-1
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