Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients

Human Mutation

Volumn 39, Issue 5, 2018, Pages 643-652

  Saklatvala, Jake R ^a   Dand, Nick ^a   Simpson, Michael A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

genetic diagnosis; HPO; Mendelian; monogenic; phenotype similarity; rare disease; variant prioritization; whole exome sequencing; whole genome sequencing

Indexed keywords

ARTICLE; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC VARIABILITY; MENDELIAN DISORDER; MONOGENIC DISORDER; ONTOLOGY; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SIMULATION; COMPUTER SIMULATION; DATA MINING; DISEASES; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFORMATION PROCESSING; PROBABILITY; SEARCH ENGINE; STATISTICAL MODEL;

COMPUTER SIMULATION; DATA CURATION; DATA MINING; DATABASES, GENETIC; DISEASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOGISTIC MODELS; PHENOTYPE; PROBABILITY; SEARCH ENGINE;

EID: 85043706476     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23413     Document Type: Article

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