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

Details

• Alternative Title:
  Ann Lab Med
• Personal Author:
  Kalman, Lisa V. ; Datta, Vivekananda ; Williams, Mickey ; Zook, Justin M. ; Salit, Marc L. ; Han, Jin-Yeong
• 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
• Volume:
  36
• Issue:
  6
• 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:
  [PDF - 595.37 KB ]