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Article

A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing.

The Journal of molecular diagnostics : JMD - 1 Jul 2015

Oliveira Théo G M, Mitne-Neto Miguel, Cerdeira Louise T, Marsiglia Julia D C, Arteaga-Fernandez Edmundo, Krieger José E, Pereira Alexandre C

Abstract excerpt

In inherited cardiomyopathies, genetic testing is recognized as an enriching procedure in the diagnostic closure of a cardiac condition. Many genetic mutations have been described as pathogenically related to cardiomyopathies, turning next-generation sequencing into an extremely reliable scenario. Here we describe the validation process of a pipeline constructed with a target panel of 74 cardiomyopathy-related...

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Biomarkers
Cardiac Myosins
Cardiomyopathies
Computational Biology
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Myosin Heavy Chains

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Identifiers

PMID: 25937619
DOI: 10.1016/j.jmoldx.2015.02.003

Genes

MYH7
TNNT2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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