Title |
Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships
|
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Published in |
Annals of Laboratory Medicine, August 2016
|
DOI | 10.3343/alm.2016.36.6.513 |
Pubmed ID | |
Authors |
Lisa V. Kalman, Vivekananda Datta, Mickey Williams, Justin M. Zook, Marc L. Salit, Jin-Yeong Han |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 31 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 6 | 19% |
Other | 4 | 13% |
Student > Bachelor | 3 | 10% |
Student > Ph. D. Student | 3 | 10% |
Student > Master | 2 | 6% |
Other | 4 | 13% |
Unknown | 9 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 11 | 35% |
Agricultural and Biological Sciences | 5 | 16% |
Nursing and Health Professions | 2 | 6% |
Unspecified | 1 | 3% |
Business, Management and Accounting | 1 | 3% |
Other | 2 | 6% |
Unknown | 9 | 29% |