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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 513 - 520 (8page)
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초록· 키워드
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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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참고문헌 (44)
참고문헌 신청
Kalman LV / 2013 / Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics / Arch Pathol Lab Med 137:983~988
Corbisier P / 2015 / DNA copy number concentration measured by digital and droplet digital quantitative PCR using certified reference materials / Anal Bioanal Chem 407:1831~1840
Schrijver I / 2012 / Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology / J Mol Diagn 14:525~540
Gargis AS / 2012 / Assuring the quality of next- generation sequencing in clinical laboratory practice / Nat Biotechnol 30:1033~1036
Chen B / 2009 / Good laboratory practices for molecular genetic testing for heritable diseases and conditions / MMWR Recomm Rep 58(RR-6):1~37
Corbisier P / 2015 / DNA copy number concentration measured by digital and droplet digital quantitative PCR using certified reference materials / Anal Bioanal Chem 407:1831~1840
Schrijver I / 2012 / Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology / J Mol Diagn 14:525~540
Gargis AS / 2012 / Assuring the quality of next- generation sequencing in clinical laboratory practice / Nat Biotechnol 30:1033~1036
Chen B / 2009 / Good laboratory practices for molecular genetic testing for heritable diseases and conditions / MMWR Recomm Rep 58(RR-6):1~37
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