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.
Subject:
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Assay Validation
DNA Sequencing
Genetic Tests
Genome Sequencing
Genomics
Molecular Oncology
Next Generation Sequencing
Quality Control
Reference Materials
Review Article

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
File Type:

Supporting Files

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