Article
Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits.
Proceedings of the National Academy of Sciences of the United States of America - 29 Aug 2023
Hudaiberdiev Sanjarbek, Taylor D Leland, Song Wei, Narisu Narisu, Bhuiyan Redwan M, Taylor Henry J, Tang Xuming, Yan Tingfen, Swift Amy J, Bonnycastle Lori L, Consortium Diamante, Chen Shuibing, Stitzel Michael L, Erdos Michael R, Ovcharenko Ivan, Collins Francis S
Abstract excerpt
Genetic association studies have identified hundreds of independent signals associated with type 2 diabetes (T2D) and related traits. Despite these successes, the identification of specific causal variants underlying a genetic association signal remains challenging. In this study, we describe a deep learning (DL) method to analyze the impact of sequence variants on enhancers. Focusing on pancreatic islets, a T2D...
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