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Article

Evaluating the informativeness of deep learning annotations for human complex diseases.

Nature communications - 17 Sept 2020

Dey Kushal K, van de Geijn Bryce, Kim Samuel Sungil, Hormozdiari Farhad, Kelley David R, Price Alkes L

Abstract excerpt

Deep learning models have shown great promise in predicting regulatory effects from DNA sequence, but their informativeness for human complex diseases is not fully understood. Here, we evaluate genome-wide SNP annotations from two previous deep learning models, DeepSEA and Basenji, by applying stratified LD score regression to 41 diseases and traits (average N = 320K), conditioning on a broad set of coding,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32943643
DOI: 10.1038/s41467-020-18515-4
PMCID: PMC7499261

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