Article
A meta-analysis of single-nucleus expression quantitative trait loci linking genetic risk to brain disorders.
Nature genetics - 1 Apr 2026
Jang Beomjin, Bp Kailash, Tokolyi Alex, Dredge Winston H, Ravi Ashvin, Jung Sang-Hyuk, Naito Tatsuhiko, Kim Beomsu, Kim Min Seo, Cho Minyoung, Park Mi-So, Rosen Mikaela, Blanchard Joel, Humphrey Jack, Knowles David A, Won Hong-Hee, Raj Towfique
Abstract excerpt
Most genetic risk variants for neurological diseases are located in noncoding regulatory regions, where they often act as expression quantitative trait loci (eQTLs), modulating gene expression and influencing disease susceptibility. However, eQTL studies in bulk brain tissue or cell lines fail to capture the brain's cellular diversity. Single-nucleus RNA sequencing (snRNA-seq) allows high-resolution mapping of...
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