Article
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
American journal of human genetics - 1 Oct 2020
Galer Peter D, Ganesan Shiva, Lewis-Smith David, McKeown Sarah E, Pendziwiat Manuela, Helbig Katherine L, Ellis Colin A, Rademacher Annika, Smith Lacey, Poduri Annapurna, Seiffert Simone, von Spiczak Sarah, Muhle Hiltrud, van Baalen Andreas, Thomas Rhys H, Krause Roland, Weber Yvonne, Helbig Ingo
Abstract excerpt
More than 100 genetic etiologies have been identified in developmental and epileptic encephalopathies (DEEs), but correlating genetic findings with clinical features at scale has remained a hurdle because of a lack of frameworks for analyzing heterogenous clinical data. Here, we analyzed 31,742 Human Phenotype Ontology (HPO) terms in 846 individuals with existing whole-exome trio data and assessed associated...
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