Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.

ABSTRACT:

Background

Cardiomyopathy is a clinically and genetically heterogeneous heart condition that can lead to heart failure and sudden cardiac death in childhood. While it has a strong genetic basis, the genetic aetiology for over 50% of cardiomyopathy cases remains unknown.

Methods

In this study, we analyse the characteristics of tandem repeats from genome sequence data of unrelated individuals diagnosed with cardiomyopathy from Canada and the United Kingdom (n = 1216) and compare them to those found in the general population. We perform burden analysis to identify genomic and epigenomic features that are impacted by rare tandem repeat expansions (TREs), and enrichment analysis to identify functional pathways that are involved in the TRE-associated genes in cardiomyopathy. We us

SUBMITTER: Mitina A 

PROVIDER: S-EPMC10944212 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature