Article

Prioritization of new candidate genes for rare genetic diseases by a disease-aware evaluation of heterogeneous molecular networks

2022-10-08

Abstract excerpt

<h4>ABSTRACT</h4> Screening for pathogenic variants in the diagnosis of rare genetic diseases can now be performed on all genes thanks to the application of whole exome and genome sequencing (WES, WGS). Yet the repertoire of gene-disease associations is not complete. Several computer-based algorithms and databases integrate distinct gene-gene functional networks to accelerate the discovery of gene-disease associat...

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Literature Corpus work: 86c28cb6-d4cd-5c16-9fd0-65c4b11fb486
DOI: 10.1101/2022.10.07.22280759

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