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.

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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
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article

A deep learning‐based deconvolution framework identifies human brain cell‐type specific expression quantitative trait loci (eQTLs) and pathobiology in Alzheimer’s disease

Yuan Hou, Feixiong Cheng, Lijun Dou, Jielin Xu
Alzheimer s & Dementia
Genetic Syndromes and Imprinting
article

A deep learning‐based deconvolution framework identifies human brain cell‐type specific expression quantitative trait loci (eQTLs) and pathobiology in Alzheimer’s disease

Yuan Hou, Feixiong Cheng, Lijun Dou, Jielin Xu
article en

Abstract

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.

Alzheimer s & DementiaVol. 20(S1)
Cleveland Clinic (US), Case Western Reserve University (US)
Openalex Percentile: Top 73%
Genetic Syndromes and Imprinting
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