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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2017

Nykamp Keith, Anderson Michael, Powers Martin, Garcia John, Herrera Blanca, Ho Yuan-Yuan, Kobayashi Yuya, Patil Nila, Thusberg Janita, Westbrook Marjorie, Topper Scott

Abstract excerpt

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...

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PMID: 28492532
DOI: 10.1038/gim.2017.37
PMCID: PMC5632818

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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