期刊
ANNALS OF LABORATORY MEDICINE
卷 36, 期 6, 页码 513-520出版社
KOREAN SOC LABORATORY MEDICINE
DOI: 10.3343/alm.2016.36.6.513
关键词
Reference materials; Genetic tests; DNA sequencing; Next generation sequencing; Molecular oncology; Quality control; Assay validation; Genomics; Genome sequencing
资金
- Dong-A University research fund
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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