Evaluating the informativeness of deep learning annotations for human complex diseases

Deep learning models have shown great promise in predicting regulatory effects from DNA sequence. Here the authors evaluate sequence-based epigenomic deep learning models and conclude that these models are not yet ready to inform our knowledge of human disease.

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Bibliographic Details
Main Authors: Kushal K. Dey, Bryce van de Geijn, Samuel Sungil Kim, Farhad Hormozdiari, David R. Kelley, Alkes L. Price
Format: article
Language:EN
Published: Nature Portfolio 2020
Subjects:
Q
Online Access:https://doaj.org/article/e966c41c45b24c86a35cad7f34f42b80
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Summary:Deep learning models have shown great promise in predicting regulatory effects from DNA sequence. Here the authors evaluate sequence-based epigenomic deep learning models and conclude that these models are not yet ready to inform our knowledge of human disease.