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Article

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Clinica chimica acta; international journal of clinical chemistry - 10 Jun 2014

Millat Gilles, Chanavat Valérie, Rousson Robert

Abstract excerpt

BACKGROUND: Hypertrophic and dilated cardiomyopathies are common genetic cardiac diseases. Due to large cohorts to investigate, large number of causative genes and high rate of private mutations, mutational screening must be performed using an extremely sensitive and specific detection method. METHODS: NGS workflow based on a custom AmpliSeq panel was designed for sequencing most prevalent cardiomyopathy-causing...

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Source

Identifiers

PMID: 24721642
DOI: 10.1016/j.cca.2014.03.032

Genes

MYBPC3

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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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