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A genome sequencing program for novel undiagnosed diseases

Academic Article
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Overview

authors

  • Bloss, C. S.
  • Zeeland, A. A. S. V.
  • Topol, S. E.
  • Darst, B. F.
  • Boeldt, D. L.
  • Erikson, G. A.
  • Bethel, K. J.
  • Bjork, R. L.
  • Friedman, J. R.
  • Hwynn, N.
  • Patay, B. A.
  • Pockros, Paul J.
  • Scott, E. R.
  • Simon, R. A.
  • Williams, G. W.
  • Schork, Nicholas
  • Topol, Eric
  • Torkamani, Ali

publication date

  • December 2015

journal

  • Genetics in Medicine  Journal

subject areas

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Genetic Diseases, Inborn
  • Genome, Human
  • Genomics
  • Humans
  • Infant
  • Male
  • Pathology, Molecular
  • Rare Diseases
  • Sequence Analysis, DNA
  • Young Adult
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Research

keywords

  • clinical sequencing
  • genome sequencing
  • genomics
  • rare disease
  • undiagnosed diseases
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Identity

PubMed Central ID

  • PMC4575596

International Standard Serial Number (ISSN)

  • 1098-3600

Digital Object Identifier (DOI)

  • 10.1038/gim.2015.21

PubMed ID

  • 25790160
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Additional Document Info

start page

  • 995

end page

  • 1001

volume

  • 17

issue

  • 12

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