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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

BACKGROUND: The American College of Medical Genetics and American College of Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely used in diagnostic laboratories for variant interpretation. The ACMG/AMP guidelines recommend complete concordance of predictions a...

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Detalles Bibliográficos
Autores principales:	Ghosh, Rajarshi, Oak, Ninad, Plon, Sharon E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704597/ https://www.ncbi.nlm.nih.gov/pubmed/29179779 http://dx.doi.org/10.1186/s13059-017-1353-5

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