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

Nov 2016
By Kalman, Lisa V. ; Datta, Vivekananda ; Williams, Mickey ; ...
Source: Ann Lab Med. 2016; 36(6):513-520.

[PDF-595.37 KB]

English

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Details:

Alternative Title:

Ann Lab Med
Personal Author:

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

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

[+]

Genetic Testing High-Throughput Nucleotide Sequencing Humans Public Relations Quality Control Reference Values Sequence Analysis, DNA
Source:

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

27578503
Pubmed Central ID:

PMC5011103
Document Type:

Journal Article
Collection(s):

CDC Public Access
Main Document Checksum:

[+]

urn:sha256:bc187bedb65a59665362c2a354f70855129575fcb6425b161293b5b4113c1a3e
Download URL:

https://stacks.cdc.gov/view/cdc/42964/cdc_42964_DS1.pdf
File Type:

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