Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

Kalman, Lisa V.; Datta, Vivekananda; Williams, Mickey; Zook, Justin M.; Salit, Marc L.; Han, Jin-Yeong

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Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

Published Date:

Nov 2016

Source:

Ann Lab Med. 2016; 36(6):513-520.

[PDF-595.37 KB]

Details:

Personal Authors:

Kalman, Lisa V. ; Datta, Vivekananda ; Williams, Mickey ; Zook, Justin M. ; Salit, Marc L. ; ... More ▼

Keywords:

[+]

Pubmed ID:

27578503

Pubmed Central ID:

PMC5011103

Description:

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.

Document Type:

Journal Article

Collection(s):

CDC Public Access

Supporting Files:

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