Article

Evaluating the informativeness of deep learning annotations for human complex diseases

2019-09-26

Abstract excerpt

Deep learning models have shown great promise in predicting genome-wide regulatory effects from DNA sequence, but their informativeness for human complex diseases and traits is not fully understood. Here, we evaluate the disease informativeness of allelic-effect annotations (absolute value of the predicted difference between reference and variant alleles) constructed using two previously trained deep learning mode...

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Literature Corpus work: 2acad1e6-733b-5e89-96be-b1bcc522bcbb
DOI: 10.1101/784439

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