Integrating axis quantitative trait loci looks beyond cell types and offers insights into brain-related traits.

ABSTRACT: Genome-wide association studies have identified many loci for brain disorders, but most non-coding variants fail to colocalize with bulk expression quantitative trait loci. Single-cell expression quantitative trait loci studies capture cell-type-specific regulation but are often underpowered. We developed Bulk And Single cell expression quantitative trait loci Integration across Cell states (BASIC) to combine bulk and single-cell expression quantitative trait loci through "axis-quantitative trait loci," which decompose bulk-tissue effects along orthogonal axes of cell-type expression. BASIC better distinguishes shared versus cell-type-specific effects and increases power. Analyzing single-cell expression quantitative trait loci with cortex bulk data from MetaBrain using BASIC identified 56

SUBMITTER: Wang L 

PROVIDER: S-EPMC12658083 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature