Benchmark for evaluating the quality of DNA sequencing: Proposal from an international external quality assessment scheme

Clinical Chemistry

Volumn 52, Issue 4, 2006, Pages 728-736

  Patton, Simon J ^a   Wallace, Andrew J ^a   Elles, Rob ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CLINICAL LABORATORY; DNA SEQUENCE; EUROPE; GENOTYPE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; ONLINE SYSTEM; QUALITY CONTROL; QUESTIONNAIRE; SCORING SYSTEM;

BENCHMARKING; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DATA COLLECTION; DATA INTERPRETATION, STATISTICAL; EUROPE; GENOTYPE; HUMANS; LABORATORIES; MUTATION; QUALITY CONTROL; SEQUENCE ANALYSIS, DNA;

EID: 33645451773     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.061887     Document Type: Article

References (27)

1. The United Kingdom National External Quality Assessment Scheme (UKNEQAS) for Molecular Genetics. http://www.ukneqasmolgen.org.uk (accessed October 2005).
2. College of American Pathologists (CAP), http://www.cap.org (accessed October 2005).
3. Quality Control in Molecular Diagnostics (QCMD). http://www. qcmd.org (accessed October 2005).
4. EC4-EQUAL project, http://www.ec-4.org/equal/home.htm (accessed October 2005).
5. European Cystic Fibrosis Thematic Network. http://www.cfnetwork.be/ (accessed October 2005).
6. The European Molecular Genetics Quality Network (EMQN). www. emqn.org (accessed October 2005).
7. National Genetics Reference Laboratory (Manchester). http://www.nrgl.org. uk/manchester.html (accessed October 2005).
8. Ibaretta D, Elles R, Cassiman JJ, Rodriguez-Cerezo E, Dequeker E. Towards quality assurance and harmonisation of genetic testing services in the European Union. Nat Biotechnol 2004;22:1230-5.
9. Mueller CR, Kristoffersson U, Stoppa-Lyonnet D. External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years. Ann Oncol 2004;15(Suppl 1):114-7.
10. Dequeker E, Cassiman JJ. Genetic testing and quality control in diagnostic laboratories. Nat Genet 2000;25:259-60.
11. Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE. Quality control in molecular genetic testing. Nat Rev Genet 2001;2:717-23.
12. Preston FE, Kitchen S, Jennings I, Woods TA. A UK National External Quality Assessment scheme (UK NEQAS) for molecular genetic testing for the diagnosis of familial thrombophilia. Thromb Haemost 1999;82:1556-7.
13. Valentine-Thon E, van Loon AM, Schirm J, Reid J, Klapper PE, Cleator GM. European proficiency testing program for molecular detection and quantification of hepatitis B virus DNA. J Clin Microbiol 2001;39:4407-12.
14. Voelckel M-A, Ramsden S, Matthijs G. Draft best practice guidelines for the molecular diagnosis of Prader-Willi and Angelman syndromes (2002). Available on the EMQN website. http://www. emqn.org (accessed October 2005).
15. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state of the art 2004. Int J Androl 2004;27:240-5.
16. Casini Raggi C, Pinzani P, Paradiso A, Pazzagli M, Orlando C. External quality assurance program for PCR amplification of genomic DNA: an Italian experience. Clin Chem 2003;49:782-91.
17. Orlando C, Casini Raggi C, Pazzagli M. Molecular diagnosis and quality control; a program for DNA analysis with PCR amplification [Abstract]. Clin Chem Lab Med 2000;7:A10.
18. Braun A, Deufel T, Geilenkeuser WJ, Neumaier M, Rohle G, Roscher A, et al. External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics. Clin Chem Lab Med 1998;36:231-4.
19. Neumaier M, Braun A, Gessner R, Funke H. Experiences with external quality assessment (EQA) in molecular diagnostics in clinical laboratories in Germany. Working Group of the German Societies of Clinical Chemistry (DGKC) and Laboratory Medicine (DGLM). Clin Chem Lab Med 2000;38:161-3.
20. Birch L, English CA, Burns M, Keer JT. Generic scheme for independent performance assessment in the molecular biology laboratory. Clin Chem 2004;50:1553-9.
21. Patton S, Taylor G. Final report of a pilot EQA scheme for DNA sequencing (2002). Available on the EMQN website. http://www. emqn.org (accessed October 2005).
22. CodonCode Corporation. http://www.codoncode.com (accessed October 2005).
23. SourceForge.net http://staden.sourceforge.net (accessed October 2005).
24. Patton S, Wallace A. Final report: EMQN pilot external quality assessment scheme for DNA sequencing (2003). Available on the EMQN website http://www.emqn.org (accessed October 2005).
25. Human Genome Variation Society (HGVS). http://www.hgvs.org (accessed October 2005).
26. Patel Y, Wallace A. Mutation scanning-Applied Biosystems VariantSEQr and SeqScape v2.1 - an assessment using a model system [Technology Assessment Report]. September 2005. Available on the NGRL website. http://www.ngrl.org.uk/ Manchester (accessed October 2005).
27. Patel Y, Wallace A. Automated mutation detection using SoftGenetics Mutation Surveyor™ v2.51 [Technology Assessment Report]. September 2005. Available on the NGRL website. http://www.ngrl.org.uk/Manchester (accessed October 2005).