Article

Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning

2023-11-13

Abstract excerpt

<h4>Motivation</h4> 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...

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Literature Corpus work: 8b4033f5-34fd-5909-846c-3b7feabf9b2f
DOI: 10.1101/2023.11.08.566179

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