Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

doi:10.1161/CIRCGENETICS.116.001666

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Article

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Circulation. Cardiovascular genetics - 1 Aug 2017

Burns Charlotte, Bagnall Richard D, Lam Lien, Semsarian Christopher, Ingles Jodie

Abstract excerpt

BACKGROUND: Multiple likely pathogenic/pathogenic (LP/P; ≥2) variants in patients with hypertrophic cardiomyopathy were described 10 years ago with a prevalence of 5%. We sought to re-examine the significance of multiple rare variants in patients with hypertrophic cardiomyopathy in the setting of comprehensive and targeted panels. METHODS AND RESULTS: Of 758 hypertrophic cardiomyopathy probands, we included 382...

Topics

Adult
Age Factors
Aged
Cardiomyopathy, Hypertrophic
Death, Sudden, Cardiac
Disease-Free Survival
Female
Gene Frequency
Genetic Variation
High-Throughput Nucleotide Sequencing
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kaplan-Meier Estimate

Male

Middle Aged

Mutation, Missense

Odds Ratio

Phenotype

Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 28790153
DOI: 10.1161/CIRCGENETICS.116.001666

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