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

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

Abstract 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 predi...

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Bibliographic Details
Main Authors: Rajarshi Ghosh, Ninad Oak, Sharon E. Plon
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Genome Biology
Subjects:
Variant interpretation
In silico algorithm
ROC
ClinVar
ACMG
Clinical genetics
Online Access:http://link.springer.com/article/10.1186/s13059-017-1353-5

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http://link.springer.com/article/10.1186/s13059-017-1353-5

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