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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Considerations for the development of a reference method for sequencing of haploid DNA – an opinion paper on behalf of the IFCC Committee on Molecular Diagnostics. International Federation of Clinical Chemistry and Laboratory Medicine

François Rousseau1 / David Gancberg2 / Heinz Schimmel3 / Michael Neumaier4 / Alexandre Bureau5 / Cyril Mamotte6 / Ron van Schaik7 / Deborah Payne8 / Mario Pazzagli9 / Ian Young10

1Department of Medical Biology, Faculty of Medicine, Université Laval and CHUQ, Québec, Canada

2Directorate-General Research, European Commission, Brussels, Belgium

3European Commission, Joint Research Centre, Institute for Reference Materials and Measurements, Geel, Belgium

4Institute for Clinical Chemistry, Mannheim, Germany

5Department of Social and Preventative Medicine, Faculty of Medicine, Université Laval, Québec, Canada

6Biomedical Sciences and Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Australia

7Department of Clinical Chemistry, Erasmus MC, Rotterdam, The Netherlands

8University of Texas Southwestern, Dallas, USA

9Department of Clinical Chemistry, University of Florence, Florence, Italy

10Wellcome Research Laboratories, Belfast, UK

Corresponding author: Dr. François Rousseau, Département de Biologie Médicale, Faculté de Médecine, Centre Hospitalier Universitaire de Québec et Université Laval, 10 rue de l'Espinay, Québec, Québec G1L 3L5, Canada Phone: +1 418 525 4470, Fax: +1 418 525 4429,

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 47, Issue 11, Pages 1343–1350, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2009.319, October 2009

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Following the completion of sequencing of the human genome, there has been a very rapid increase in the development of new molecular diagnostic tests. However, the numerous genetic tests and genetic testing technologies offered do not always satisfy essential quality criteria required to ensure confidence in the results that are produced. This is of particular importance for genetic tests since many patients may be tested for a particular genetic defect only once in their lifetime. Thus, there is a pressing need for comprehensive guidelines for the validation of molecular diagnostic tests and procedures, including DNA sequencing, the latter being a fundamental aspect of the development and validation of most genetic tests. To that end, the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Committee for Molecular Diagnostics has prepared the following paper that describes a possible approach to the development of a reference method for sequencing of haploid DNA. We discuss various aspects which should be considered before, during and after applying the sequencing procedure, in order to achieve results with a known level of confidence, including robustness and assessments of quality.

Clin Chem Lab Med 2009;47:1343–50.

Keywords: DNA sequencing; nucleic acids; position paper; reference method

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