InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Volume: 100, Issue: 2, Pages: 267 - 280
Published: Feb 1, 2017
Abstract
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published updated standards and guidelines for the clinical interpretation of sequence variants with respect to human diseases on the basis of 28 criteria. However, variability between individual interpreters can be extensive because of reasons such as the different understandings of these guidelines and the lack of standard...
Paper Details
Title
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Published Date
Feb 1, 2017
Volume
100
Issue
2
Pages
267 - 280
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