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Article

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Journal of medical genetics - 1 Apr 2013

Lopes Luis R, Zekavati Anna, Syrris Petros, Hubank Mike, Giambartolomei Claudia, Dalageorgou Chrysoula, Jenkins Sharon, McKenna William, Plagnol Vincent, Elliott Perry M

Abstract excerpt

BACKGROUND: Clinical interpretation of the large number of rare variants identified by high throughput sequencing (HTS) technologies is challenging. The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy (HCM) using a targeted HTS methodology and workflow developed for patients with a range of inherited cardiovascular diseases. By comparing...

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Share to Amino Acid Substitution
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Share to Polymorphism, Single Nucleotide

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Source

Open in PubMed Open full text

Identifiers

PMID: 23396983
DOI: 10.1136/jmedgenet-2012-101270
PMCID: PMC3607113

Genes

MYBPC3
MYH7
TNNI3
TNNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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