SingleBrain: A Meta-Analysis of Single-Nucleus eQTLs Linking Genetic Risk to Brain Disorders.

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Tác giả: Joel Blanchard, Kailash Bp, Minyoung Cho, Winston H Cuddleston, Jack Humphrey, Beomjin Jang, Sang-Hyuk Jung, Beomsu Kim, David A Knowles, Tatsuhiko Naito, Mi-So Park, Towfique Raj, Ashvin Ravi, Mikaela Rosen, Min Seo Kim, Alex Tokolyi, Hong-Hee Won

Ngôn ngữ: eng

Ký hiệu phân loại: 620.199042 Engineering mechanics and materials

Thông tin xuất bản: United States : medRxiv : the preprint server for health sciences , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 723428

Most genetic risk variants for neurological diseases are located in non-coding regulatory regions, where they may often act as expression quantitative trait loci (eQTLs), modulating gene expression and influencing disease susceptibility. However, eQTL studies in bulk brain tissue or specific cell types lack the resolution to capture the brain's cellular diversity. Single-nucleus RNA sequencing (snRNA-seq) offers high-resolution mapping of eQTLs across diverse brain cell types. Here, we performed a meta-analysis, "SingleBrain," integrating publicly available snRNA-seq and genotype data from four cohorts, totaling 5.8 million nuclei from 983 individuals. We mapped
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