Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation-Reference-Cited by-同舟云学术

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Published:2019-04-24 Issue:489 Volume:11 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Clark Michelle M.¹^ORCID,Hildreth Amber¹²³^ORCID,Batalov Sergey¹^ORCID,Ding Yan¹^ORCID,Chowdhury Shimul¹,Watkins Kelly¹^ORCID,Ellsworth Katarzyna¹^ORCID,Camp Brandon¹,Kint Cyrielle I.⁴,Yacoubian Calum⁵,Farnaes Lauge¹²,Bainbridge Matthew N.¹⁶,Beebe Curtis⁷,Braun Joshua J. A.¹^ORCID,Bray Margaret⁸^ORCID,Carroll Jeanne¹²^ORCID,Cakici Julie A.¹,Caylor Sara A.¹,Clarke Christina¹,Creed Mitchell P.⁹^ORCID,Friedman Jennifer¹¹⁰,Frith Alison⁵,Gain Richard⁵,Gaughran Mary¹,George Shauna⁷^ORCID,Gilmer Sheldon⁷^ORCID,Gleeson Joseph¹¹⁰^ORCID,Gore Jeremy¹¹^ORCID,Grunenwald Haiying¹²^ORCID,Hovey Raymond L.¹^ORCID,Janes Marie L.¹^ORCID,Lin Kejia⁷^ORCID,McDonagh Paul D.⁸,McBride Kyle⁷,Mulrooney Patrick¹^ORCID,Nahas Shareef¹^ORCID,Oh Daeheon¹^ORCID,Oriol Albert⁷^ORCID,Puckett Laura¹,Rady Zia¹,Reese Martin G.¹³,Ryu Julie¹²,Salz Lisa¹^ORCID,Sanford Erica¹²,Stewart Lawrence⁷^ORCID,Sweeney Nathaly¹²,Tokita Mari¹,Van Der Kraan Luca¹^ORCID,White Sarah¹,Wigby Kristen¹²,Williams Brett⁵^ORCID,Wong Terence¹,Wright Meredith S.¹,Yamada Catherine¹,Schols Peter⁴,Reynders John⁸^ORCID,Hall Kevin¹²^ORCID,Dimmock David¹^ORCID,Veeraraghavan Narayanan¹^ORCID,Defay Thomas⁸,Kingsmore Stephen F.¹^ORCID

Affiliation:

1. Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA.

2. Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.

3. Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

4. Diploid, 3001 Leuven, Belgium.

5. Clinithink Ltd., London N1 6DR, UK.

6. Codified Genomics, LLC, Houston, TX 77033, USA.

7. Rady Children’s Hospital, San Diego, CA 92123, USA.

8. Alexion Pharmaceuticals Inc., New Haven, CT 06510, USA.

9. University of Kansas School of Medicine, Kansas City, MO 66160, USA.

10. Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.

11. Tessella, Needham, MA 02494, USA.

12. Illumina Inc., San Diego, CA 92122, USA.

13. Fabric Genomics Inc., Oakland, CA 94612, USA.

Abstract

Automated phenotyping and interpretation of rapid whole-genome sequencing improve time to diagnosis of genetic diseases in hospitalized children.

Funder

National Institutes of Health

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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4. Contribution of Birth Defects and Genetic Diseases to Pediatric Hospitalizations

5. Inpatient Hospitalization Costs Associated with Birth Defects Among Persons of All Ages — United States, 2013

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