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Article

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2018

Strande Natasha T, Brnich Sarah E, Roman Tamara S, Berg Jonathan S

Abstract excerpt

Understanding clinical genetic test results in the era of next-generation sequencing has become increasingly complex, necessitating clear and thorough guidelines for sequence variant interpretation. To meet this need the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published guidelines for a systematic approach for sequence variant interpretation in...

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Identifiers

PMID: 29988079
DOI: 10.1038/s41436-018-0100-y
PMCID: PMC6679919

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