A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

doi:10.1038/gim.2016.40

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Article

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016

Hunter Jessica Ezzell, Irving Stephanie A, Biesecker Leslie G, Buchanan Adam, Jensen Brian, Lee Kristy, Martin Christa Lese, Milko Laura, Muessig Kristin, Niehaus Annie D, O'Daniel Julianne, Piper Margaret A, Ramos Erin M, Schully Sheri D, Scott Alan F, Slavotinek Anne, Sobreira Nara, Strande Natasha, Weaver Meredith, Webber Elizabeth M, Williams Marc S, Berg Jonathan S, Evans James P, Goddard Katrina A B

Abstract excerpt

PURPOSE: Genome and exome sequencing can identify variants unrelated to the primary goal of sequencing. Detecting pathogenic variants associated with an increased risk of a medical disorder enables clinical interventions to improve future health outcomes in patients and their at-risk relatives. The Clinical Genome Resource, or ClinGen, aims to assess clinical actionability of genes and associated disorders as...

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PMID: 27124788
DOI: 10.1038/gim.2016.40
PMCID: PMC5085884

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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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