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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

Peter D. Galer, Shiva Ganesan, David Lewis‐Smith, Sarah McKeown, Manuela Pendziwiat, Katherine L. Helbig, Colin A. Ellis, Annika Rademacher, Lacey Smith, Annapurna Poduri, Simone Seiffert, Sarah von Spiczak, Hiltrud Muhle, Andreas van Baalen, Rhys H. Thomas, Roland Krause, Yvonne Weber, Ingo Helbig

2020The American Journal of Human Genetics45 citationsDOIOpen Access PDF

Topics & Concepts

Similarity (geometry)DiseaseSemantic similarityPsychologyNeuroscienceArtificial intelligenceComputer scienceMedicinePathologyImage (mathematics)Genomics and Rare DiseasesMachine Learning in BioinformaticsGenetics and Neurodevelopmental Disorders
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies | Litcius