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Article

Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort.

Scientific reports - 11 Jan 2023

van Beek Daan, Verdonschot Job, Derks Kasper, Brunner Han, de Kok Theo M, Arts Ilja C W, Heymans Stephane, Kutmon Martina, Adriaens Michiel

Abstract excerpt

Allele-specific expression (ASE) analysis detects the relative abundance of alleles at heterozygous loci as a proxy for cis-regulatory variation, which affects the personal transcriptome and proteome. This study describes the development and application of an ASE analysis pipeline on a unique cohort of 87 well phenotyped and RNA sequenced patients from the Maastricht Cardiomyopathy Registry with dilated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 36631531
DOI: 10.1038/s41598-023-27591-7
PMCID: PMC9834222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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