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Article

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Human genomics - 10 Nov 2022

Vadgama Nirmal, Ameen Mohamed, Sundaram Laksshman, Gaddam Sadhana, Gifford Casey, Nasir Jamal, Karakikes Ioannis

Abstract excerpt

BACKGROUND: Cardiomyopathies are a leading cause of progressive heart failure and sudden cardiac death; however, their genetic aetiology remains poorly understood. We hypothesised that variants in noncoding regulatory regions and oligogenic inheritance mechanisms may help close the diagnostic gap. METHODS: We first analysed whole-genome sequencing data of 143 parent-offspring trios from Genomics England 100,000...

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Identifiers

PMID: 36357925
DOI: 10.1186/s40246-022-00420-0
PMCID: PMC9647983

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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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