Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Abstract Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms to predict whether amino acid substitutions resul...

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Bibliographic Details
Main Authors: Lora J. H. Bean, Madhuri R. Hegde
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Genome Medicine
Subjects:
American College of Medical Genetics (ACMG)
Association for Molecular Pathology (AMP)
Clinical genetics
ClinVar
Diagnostics
In silico algorithm
Online Access:http://link.springer.com/article/10.1186/s13073-017-0508-z

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http://link.springer.com/article/10.1186/s13073-017-0508-z

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