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

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 algorithms for implementing them, yet computational tools for semi-automated variant interpretation are not available. To address these problems, we propose a suite of methods for implementing these criteria and have developed a tool called InterVar to help human reviewers interpret the clinical significance of variants. InterVar can take a pre-annota

SUBMITTER: Li Q 

PROVIDER: S-EPMC5294755 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature