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. 2015 Oct;36(10):985-8.
doi: 10.1002/humu.22840. Epub 2015 Aug 27.

Data sharing in the undiagnosed diseases network

Catherine A Brownstein  1 , Ingrid A Holm  1 , Rachel Ramoni  2 , David B Goldstein  3 ; Members of the Undiagnosed Diseases Network
Affiliations

Data sharing in the undiagnosed diseases network

Catherine A Brownstein et al. Hum Mutat. 2015 Oct.

Abstract

The Undiagnosed Diseases Network (UDN) builds on the successes of the Undiagnosed Diseases Program at the National Institutes of Health (NIH UDP). Through support from the NIH Common Fund, a coordinating center, six additional clinical sites, and two sequencing cores comprise the UDN. The objectives of the UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by an enlarged community of investigators across the network; (2) facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and environmental exposure data; and (3) create an integrated and collaborative research community across multiple clinical sites, and among laboratory and clinical investigators, to investigate the pathophysiology of these rare diseases and to identify options for patient management. Broad-based data sharing is at the core of achieving these objectives, and the UDN is establishing the policies and governance structure to support broad data sharing.

Keywords: Matchmaker Exchange; big data; genetics; genomics; personalized medicine; precision medicine.

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Conflict of interest statement

Conflict of interest disclosure

DBG is a consultant with LabCorp in their diagnostic exome service. The other authors have no conflict of interest.

References

    1. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014;15(3):R53. - PMC - PubMed
    1. Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014;16(10):751–8. - PMC - PubMed
    1. Might M. Hunting down my son’s killer 2012
    1. Might M. In: Cases of NGLY1. Brownstein C, editor. 2015. talk on how many cases of NGLY1 are now confirmed. ed.
    1. Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet. 2013;9(8):e1003709. - PMC - PubMed

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