PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

American Journal of Human Genetics

Volumn 103, Issue 3, 2018, Pages 389-399

  Fujiwara, Toyofumi ^a,b   Yamamoto, Yasunori ^a   Kim, Jin Dong ^a   Buske, Orion ^c   Takagi, Toshihisa ^b  

^a National Institute of Genetics   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

case report; differential diagnosis; disease phenotype association; Human Phenotype Ontology; PubCaseFinder; rare disease

Indexed keywords

ARTICLE; AUTOMATION; CASE REPORT; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; GENETIC DISORDER; HUMAN; INFORMATION PROCESSING; INTERNET; MACHINE LEARNING; MEDICAL INFORMATION SYSTEM; PHENOTYPE; PRIORITY JOURNAL; PUBCASEFINDER; RARE DISEASE; TEXT MESSAGING; DATA MINING; GENETIC DATABASE; GENETICS; PROCEDURES;

DATA MINING; DATABASES, GENETIC; DIAGNOSIS, DIFFERENTIAL; HUMANS; PHENOTYPE; RARE DISEASES;

EID: 85056451962     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2018.08.003     Document Type: Article

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