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Article

Computational and functional prioritization identifies genes that rescue behavior and reduce tau protein in fly and human cell models of Alzheimer disease.

American journal of human genetics - 1 May 2025

Stephens Morgan C, Li Jiayang, Mair Megan, Moore Justin, Zhu Katy, Tarkunde Akash, Amoh Bismark, Perez Alma M, Bhakare Arya, Guo Fangfei, Shulman Joshua M, Al-Ramahi Ismael, Botas Juan

Abstract excerpt

Genome-wide association studies (GWASs) in Alzheimer disease (AD) have uncovered over 70 loci significantly associated with AD risk, but identifying the true causal gene(s) at these loci requires systematic functional validation that is rarely performed due to limitations of time and cost. Here, we integrate transcriptome-wide association study (TWAS) with colocalization analysis, fine-mapping, and additional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40215969
DOI: 10.1016/j.ajhg.2025.03.012
PMCID: PMC12120185

Genes

MTCH2
ABCA7
CD2AP
CSTF1
ELL
HDC
MYCL
PTK2B
SLC4A9
TAP2

Provenance

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