DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants.

ABSTRACT: The genetic etiology of brain disorders is highly heterogeneous, characterized by abnormalities in the development of the central nervous system that lead to diminished physical or intellectual capabilities. The process of determining which gene drives disease, known as "gene prioritization," is not entirely understood. Genome-wide searches for gene-disease associations are still underdeveloped due to reliance on previous discoveries and evidence sources with false positive or negative relations. This paper introduces DeepGenePrior, a model based on deep neural networks that prioritizes candidate genes in genetic diseases. Using the well-studied Variational AutoEncoder (VAE), we developed a score to measure the impact of genes on target diseases. Unlike other methods that use prior data to

SUBMITTER: Rahaie Z 

PROVIDER: S-EPMC10399873 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature