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Article

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.

The Journal of molecular diagnostics : JMD - 1 Jan 2014

D'Argenio Valeria, Frisso Giulia, Precone Vincenza, Boccia Angelo, Fienga Antonella, Pacileo Giuseppe, Limongelli Giuseppe, Paolella Giovanni, Calabrò Raffaele, Salvatore Francesco

Abstract excerpt

Hypertrophic cardiomyopathy is a relatively frequent disease with a prevalence of 0.2% worldwide and a remarkable genetic heterogeneity, with more than 30 causative genes reported to date. Current PCR-based strategies are inadequate for genomic investigations involving many candidate genes. Here, we report a next-generation sequencing procedure associated with DNA sequence capture that is able to sequence 202...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24183960
DOI: 10.1016/j.jmoldx.2013.07.008

Genes

IGF2
INS
KCNQ1
MYBPC3
MYH7

Provenance

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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