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

Beomjin Jang, Hong-Hee Won, Towfique Raj

This repository includes code and plots. Exploratory analysis and intermediate processing files are too large for this repository.

The full associations and top association summary statistics are publicly available at the https://zenodo.org/records/14908182

Description

A cis-eQTL meta-analysis, called "SingleBrain", integrates publicly available snRNA-seq and genotype data from four independent cohorts: Fujita et al., Mathys et al., Gabitto et al., and Bryois et al.

a) Integration of publicly available single-nucleus RNA sequencing (snRNA-seq) and genotype data from four independent studies. A cis-eQTL meta-analysis was conducted across major central nervous system (CNS) cells and subtypes using a linear mixed model approach (multivariate multiple QTL, mmQTL). b) Cell proportion of each donor. c) Candidate genes and putative causal variants associated with neurodegenerative and neuropsychiatric diseases were identified through statistical colocalization, Mendelian randomization, and fine-mapping.

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