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Article

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

Bioinformatics (Oxford, England) - 2 May 2024

Althagafi Azza, Zhapa-Camacho Fernando, Hoehndorf Robert

Abstract excerpt

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...

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PMID: 38696757
DOI: 10.1093/bioinformatics/btae301
PMCID: PMC11132820

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