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

出版年份 2018 全文链接

标题

作者

关键词

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

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 103, Issue 1, Pages 58-73

出版商

Elsevier BV

发表日期

2018-06-28

DOI

10.1016/j.ajhg.2018.05.010

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