Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning
Azza Althagafi,
Fernando Zhapa-Camacho,
Robert Hoehndorf
Abstract:Motivation
Whole-exome and genome sequencing have become common tools in diagnosing patients with rare diseases. Despite their success, this approach leaves many patients undiagnosed. A common argument is that more disease variants still await discovery, or the novelty of disease phenotypes results from a combination of variants in multiple disease-related genes. Interpreting the phenotypic consequences of genomic variants relies on information about gene functions, gene expression, physiolog… Show more
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