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

Author
Azza Althagafi
Fernando Zhapa-Camacho
Robert Hoehndorf
Keywords
Rare disease
Neuro-symbolic AI
Abstract

EmbedPVP and all evaluation experiments are freely available at https://github.com/bio-ontology-research-group/EmbedPVP.
Year of Publication
2024
Journal
Bioinformatics
URL
https://doi.org/10.1093/bioinformatics/btae301
DOI
https://doi.org/10.1093/bioinformatics/btae301
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