articleNew England Journal of MedicineJun 18, 2014Closed access

Diagnostic Clinical Genome and Exome Sequencing

LGLeslie G. BieseckerRGRobert Green

National Institutes of Health · National Human Genome Research Institute

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Abstract

The use of clinical genome and exome sequencing for genetic diagnosis has grown substantially. This review provides guidance for clinicians seeking diagnostic confirmation of a disease suspected to be genetic in origin.

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606
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100%
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Authors

2
  • LG
    Leslie G. BieseckerCorresponding

    National Institutes of Health, National Human Genome Research Institute

  • RG
    Robert Green

Topics & keywords

Topics
Keywords
  • Medicine
  • Exome sequencing
  • Exome
  • Genome
  • Computational biology
  • DNA sequencing
  • Whole genome sequencing
  • Genetics
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