Long-read sequencing reveals novel isoform-specific eQTLs and regulatory mechanisms of isoform expression in human B cells

Abstract Background Genetic variations linked to changes in gene expression are known as expression quantitative loci (eQTLs). The identification of eQTLs helps to understand the mechanisms governing gene expression. However, prior studies have primarily utilized short-read sequencing techniques, an...

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Autores principales:	Yuya Nagura, Mihoko Shimada, Ryoji Kuribayashi, Ko Ikemoto, Hiroki Kiyose, Arisa Igarashi, Tadashi Kaname, Motoko Unoki, Akihiro Fujimoto
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2025-05-01
Colección:	Genome Biology
Materias:	Genetic variation Long reads eQTL Isoform eQTLs GWAS
Acceso en línea:	https://doi.org/10.1186/s13059-025-03583-w
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