A deep learning‐based deconvolution framework identifies human brain cell‐type specific expression quantitative trait loci (eQTLs) and pathobiology in Alzheimer’s disease
In summary, this study presented comprehensive brain cell type-specific eQTL analysis and identified potential eQTL-regulated likely causal genes from AD GWAS findings using a deep learning-based deconvolution framework. It offers an opportunity to efficiently discover the effect of GWAS loci on gene expression at cell type-specific manners using genotyping data and matched bulk RNA-seq data instead of costly snRNA-seq data. Functional validation of candidate eQTLs and associated genes are warranted in the future.
Authors
- Yuan Hou (ORCID: https://orcid.org/0000-0002-3900-6122)
- Feixiong Cheng (ORCID: https://orcid.org/0000-0002-1736-2847)
- Lijun Dou
- Jielin Xu
Institutions
- Cleveland Clinic (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.089093
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00