Open AccessA survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record
Author(s) -
Peter TarczyHornoch,
Laura M. Amendola,
Samuel Aronson,
Levi A. Garraway,
Stacy W. Gray,
Robert W. Grundmeier,
Lucia A. Hindorff,
Gail P. Jarvik,
Dean Karavite,
Matthew S. Lebo,
Sharon E. Plon,
Eliezer M. Van Allen,
Karen E. Weck,
Peter S. White,
Yaping Yang
Publication year - 2013
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2013.120
Subject(s) - clinical decision support system , workflow , data science , health informatics tools , health informatics , informatics , computer science , decision support system , medicine , data mining , nursing , public health , database , electrical engineering , engineering
Genome-scale clinical sequencing is being adopted more broadly in medical practice. The National Institutes of Health developed the Clinical Sequencing Exploratory Research (CSER) program to guide implementation and dissemination of best practices for the integration of sequencing into clinical care. This study describes and compares the state of the art of incorporating whole-exome and whole-genome sequencing results into the electronic health record, including approaches to decision support across the six current CSER sites.
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