Article

DeepGenePrior: A deep learning model to prioritize genes affected by copy number variants

2022-08-23

Abstract excerpt

The genetic etiology of neurodevelopmental disorders is highly heterogeneous. They are characterized by abnormalities in the development of the central nervous system, which lead to diminished physical or intellectual capabilities. Determining which gene is the driver of disease (not just a passenger), termed ‘gene prioritization,’ is not entirely known. In terms of disease-gene associations, genome-wide explorati...

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Literature Corpus work: 2341d6ab-a0fc-52d0-8be2-b03997df452f
DOI: 10.1101/2022.08.22.504862

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