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Article

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

Journal of the American College of Cardiology - 24 Jul 2018

Bagnall Richard D, Ingles Jodie, Dinger Marcel E, Cowley Mark J, Ross Samantha Barratt, Minoche André E, Lal Sean, Turner Christian, Colley Alison, Rajagopalan Sulekha, Berman Yemima, Ronan Anne, Fatkin Diane, Semsarian Christopher

Abstract excerpt

BACKGROUND: Whole genome sequencing (WGS) is a comprehensive genetic testing approach that reports most types of nucleotide variants. OBJECTIVES: This study sought to assess WGS for hypertrophic cardiomyopathy (HCM) in which prior genetic testing did not establish a molecular diagnosis, and as a first-line genetic test. METHODS: WGS was performed on 58 unrelated patients with HCM, 14 affected family members, and...

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Identifiers

PMID: 30025578
DOI: 10.1016/j.jacc.2018.04.078

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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