Article

Integration of Deep Learning Annotations with Functional Genomics Improves Identification of Causal Alzheimer's Disease Variants

2025-03-10

Abstract excerpt

Genetic variants associated with Alzheimer's disease (AD) through genome-wide association studies (GWAS) are challenging to interpret because most lie in non-coding regions of the genome. Here, a method was developed that integrates deep learning variant effect prediction (DL-VEP) scores from Enformer, DeepSea, and ChromBPNet models with cell-type specific regulatory annotations to improve fine-mapping of causal A...

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Literature Corpus work: b3b8e4ec-9c0e-5c46-ac15-bc4fadc395fb
DOI: 10.1101/2025.03.07.25323578

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