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KMID : 1100720160360060513
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Annals of Laboratory Medicine
2016 Volume.36 No. 6 p.513 ~ p.520
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Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships
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Kalman Lisa V.
Datta Vivekananda
Williams Mickey
Zook Justin M.
Salit Marc L.
Han Jin-Yeong
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Abstract
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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.
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KEYWORD
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Reference materials, Genetic tests, DNA sequencing, Next generation sequencing, Molecular oncology, Quality control, Assay validation, Genomics, Genome sequencing
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