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

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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 among all in silico algorithms used without specifying the number or types of algorithms.

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Nội dung Text: Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

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