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Article History

Received: 19 December 2017

Accepted: 9 August 2018

First Online: 22 August 2018

Ethics approval and consent to participate

: All applicants provided electronic informed consent with electronic signature as approved by the National Human Genome Research Institute Institutional Review Board under research protocol 15-HG-0130.

: Consent for research and publication is included in the electronic informed consent as approved by the National Human Genome Research Institute Institutional Review Board under research protocol 15-HG-0130.

: The named authors of this work report no conflicts of interest. Members of the Undiagnosed Diseases Network report the following conflicts of interest: E.A.A. is an advisor to and stockholder in Personalis Inc. D.P.B. is a founder and chief medical officer of Envision Genomics, medical director of Smith Family Clinic LLC, assistant director of Clinical Services Laboratory LLC, and a scientific advisory board member of Genomics England. C.M.E. is a fulltime faculty member of Baylor College of Medicine and provides services as chief medical officer and chief quality officer to Baylor Genetics Laboratory through a professional services agreement. P.G.F. is an associate editor of the Journal of Pediatrics (Elsevier) and a paid consultant. D.B.G. owns equity in two precision medicine companies, Pairnomix and Clarus/EpiPM. J.E.P. is an employee of the Department of Molecular and Human Genetics at Baylor College of Medicine, which has entered a joint venture with Baylor Genetics Laboratory. J.A.R. is a member of the Department of Molecular and Human Genetics at Baylor College of Medicine, which derives revenue from clinical genetic testing offered by Baylor Genetics. M.S.C. is a laboratory director for the HudsonAlpha Clinical Services Lab LLC, which performs fee-for-service clinical laboratory testing. D.A.S. is a member of the Clinical Advisory Board of Baylor Genetics and works for the Department of Molecular and Human Genetics at Baylor College of Medicine, which derives revenue from genetic analyses offered through Baylor Genetics. E.K.S. received honoraria and consulting fees from Merck, grant support and consulting fees from GlaxoSmithKline, and honoraria and travel support from Novartis. P.A.W. is a contract employee for Baylor Genetics, a clinical laboratory that derives income from whole-exome sequencing and other genetic testing.

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