Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes

American Journal of Human Genetics

Volumn 103, Issue 1, 2018, Pages 58-73

  Son, Jung Hoon ^a   Xie, Gangcai ^a,b   Yuan, Chi ^a   Ena, Lyudmila ^a   Li, Ziran ^a   Goldstein, Andrew ^a   Huang, Lulin ^a,b   Wang, Liwei ^c   Shen, Feichen ^c   Liu, Hongfang ^c   Mehl, Karla ^a   Groopman, Emily E ^a   Marasa, Maddalena ^a   Kiryluk, Krzysztof ^a   Gharavi, Ali G ^a   Chung, Wendy K ^a   Hripcsak, George ^a   Friedman, Carol ^a   Weng, Chunhua ^a   Wang, Kai ^a,b,d  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c MAYO CLINIC   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

biomedical informatics; diagnosis; electronic health records; exome; genome; knowledge engineering; natural language processing; next generation sequencing; phenotyping; precision medicine

Indexed keywords

ADOLESCENT; ADULT; ANALYSIS OF VARIANCE; ARTICLE; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; DOCUMENTATION; ELECTRONIC HEALTH RECORD; EXOME; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; NATURAL LANGUAGE PROCESSING; NEXT GENERATION SEQUENCING; PHENOTYPE; PREDICTIVE VALUE; PRIORITY JOURNAL; RECOGNITION INDEX; SANGER SEQUENCING; WHOLE EXOME SEQUENCING; CHRONIC KIDNEY FAILURE; GENETICS; GENOMICS; INFANT; NEWBORN; PRESCHOOL CHILD; PROCEDURES; RETROSPECTIVE STUDY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; ELECTRONIC HEALTH RECORDS; EXOME; FEMALE; GENETIC TESTING; GENOMICS; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; RENAL INSUFFICIENCY, CHRONIC; RETROSPECTIVE STUDIES;

EID: 85048729565     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2018.05.010     Document Type: Article

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