A genome sequencing program for novel undiagnosed diseases

Academic Article

• Overview
• Research
• Identity
• Additional Document Info
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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

Research

keywords

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

Identity

PubMed Central ID

• PMC4575596

International Standard Serial Number (ISSN)

• 1098-3600

Digital Object Identifier (DOI)

• 10.1038/gim.2015.21

PubMed ID

• 25790160

Additional Document Info

start page

• 995

end page

• 1001

volume

• 17

issue

• 12