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

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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Bibliographic Details
Main Authors: Yuya Nagura, Mihoko Shimada, Ryoji Kuribayashi, Ko Ikemoto, Hiroki Kiyose, Arisa Igarashi, Tadashi Kaname, Motoko Unoki, Akihiro Fujimoto
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Biology
Subjects:
Genetic variation
Long reads
eQTL
Isoform eQTLs
GWAS
Online Access:https://doi.org/10.1186/s13059-025-03583-w
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