Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

  • Kalman, Lisa V. (Centers for Disease Control and Prevention) ;
  • Datta, Vivekananda (Frederick National Laboratory for Cancer Research, National Cancer Institute) ;
  • Williams, Mickey (Frederick National Laboratory for Cancer Research, National Cancer Institute) ;
  • Zook, Justin M. (National Institute of Standards and Technology) ;
  • Salit, Marc L. (National Institute of Standards and Technology) ;
  • Han, Jin-Yeong (Department of Laboratory Medicine, Dong-A University College of Medicine)
  • Received : 2016.03.18
  • Accepted : 2016.07.18
  • Published : 2016.11.01
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Abstract

Characterized reference materials (RMs) are needed for clinical laboratory test development and validation, quality control procedures, and proficiency testing to assure their quality. In this article, we review the development and characterization of RMs for clinical molecular genetic tests. We describe various types of RMs and how to access and utilize them, especially focusing on the Genetic Testing Reference Materials Coordination Program (Get-RM) and the Genome in a Bottle (GIAB) Consortium. This review also reinforces the need for collaborative efforts in the clinical genetic testing community to develop additional RMs.

Keywords

Acknowledgement

Supported by : Dong-A University

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