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

Published 2020 View Full Article

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Title
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
Authors
Keywords
electronic medical records, Human Phenotype Ontology, childhood epilepsies, neurogenetic disorders, developmental and epileptic encephalopathies, whole-exome sequencing, computational phenotypes
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 107, Issue 4, Pages 683-697
Publisher
Elsevier BV
Online
2020-08-26
DOI
10.1016/j.ajhg.2020.08.003

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