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

Published 2018 View Full Article

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Title
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes
Authors
Keywords
electronic health records, phenotyping, biomedical informatics, natural language processing, knowledge engineering, precision medicine, diagnosis, next-generation sequencing, exome, genome
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 103, Issue 1, Pages 58-73
Publisher
Elsevier BV
Online
2018-06-28
DOI
10.1016/j.ajhg.2018.05.010

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