Article

Harnessing Mondo and the ILAE Classification for Curation and Analysis of 71,942 epilepsy patient variants

2025-01-08

Abstract excerpt

Mapping epilepsy variants in ClinVar to standard disease classifications remains challenging due to incomplete phenotype information. We integrated the Mondo Disease Ontology (Mondo) with the International League Against Epilepsy (ILAE) Classification to systematically identify, organize, and analyze age-dependent epilepsy-associated variants from the world’s largest public variant repository. Starting from over t...

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Literature Corpus work: 242fde67-2ed6-5b91-8b2f-2c7b791874ce
DOI: 10.1101/2025.01.07.25320161

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