Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

ABSTRACT: PurposeThe 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspects of the guidelines lack specificity, are subject to varied interpretations, or fail to capture relevant aspects of clinical molecular genetics. A simple implementation of the guidelines in their current form is insufficient for consistent and comprehensive variant classification.MethodsWe undertook an iterative process of refining the ACMG-AMP guidelines. We used the guidelines to classify more than 40,000 clinically observed variants, assessed the outcome, and refined the classification criteria to capture exceptions and edge cases. During this pr

SUBMITTER: Nykamp K 

PROVIDER: S-EPMC5632818 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature