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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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書目詳細資料
發表在:Genome Biol
Main Authors: Ghosh, Rajarshi, Oak, Ninad, Plon, Sharon E.
格式: Artigo
語言:Inglês
出版: BioMed Central 2017
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5704597/
https://ncbi.nlm.nih.gov/pubmed/29179779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-017-1353-5
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