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A meta-analysis of single-nucleus expression quantitative trait loci linking genetic risk to brain disorders - PubMed

5 hours ago
  • #eQTL
  • #brain disorders
  • #single-nucleus RNA-seq
  • Meta-analysis integrates snRNA-seq and genotype data from 983 individuals (5.8 million nuclei) to map eQTLs in brain cell types.
  • Identifies cis- and trans-eQTLs, including disease- and sex-specific variants, with up to 10x more cis-eQTLs than bulk tissue studies.
  • Reveals cell-type-specific genes linked to neurological disorders using colocalization and Mendelian randomization.
  • SingleBrain resource provides insights into genetic mechanisms of brain disorders.
  • Funding includes multiple NIH grants and National Research Foundation of Korea awards.