reviewNature Reviews GeneticsSep 3, 2013Closed access

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

KMKym M. BoycottMRMegan R. VanstoneDEDennis E. BulmanAMAlex MacKenzie

Children's Hospital of Eastern Ontario · University of Ottawa

PubMed
Indexed incrossrefpubmed

Abstract

No abstract available for this paper.

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749
total citations
FWCI
48.13
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100%
References
87
Citations per year

Authors

4

Topics & keywords

Topics
Keywords
  • Biology
  • Identification (biology)
  • Disease
  • DNA sequencing
  • Computational biology
  • Genetics
  • Rare disease
  • Gene
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