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Article

Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Dec 2014

Golbus Jessica R, Puckelwartz Megan J, Dellefave-Castillo Lisa, Fahrenbach John P, Nelakuditi Viswateja, Pesce Lorenzo L, Pytel Peter, McNally Elizabeth M

Abstract excerpt

BACKGROUND: Cardiomyopathy is highly heritable but genetically diverse. At present, genetic testing for cardiomyopathy uses targeted sequencing to simultaneously assess the coding regions of >50 genes. New genes are routinely added to panels to improve the diagnostic yield. With the anticipated $1000 genome, it is expected that genetic testing will shift toward comprehensive genome sequencing accompanied by...

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Identifiers

PMID: 25179549
DOI: 10.1161/CIRCGENETICS.113.000578
PMCID: PMC4270910

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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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