European Journal of Human Genetics
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February 2000, Volume 8, Number 2, Pages 154-156
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Meeting Report
Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem
Anders Isaksson1, Ulf Landegren1,2, Ann-Christine Syvänen2, Peer Bork3, Christian Stein4, Flavio Ortigao5 and Anthony J Brookes6

1Department of Genetics and Pathology, Rudbeck Laboratory

2Department of Medical Sciences, Molecular Medicine, Uppsala University Hospital, Uppsala, Sweden

3European Molecular Biology Laboratory, Heidelberg

4Fraunhofer Patent Centre, Patent and Licensing Agency for DHGP, Munich

5Interactiva Biotechnologie GmbH, Ulm, Germany

6Center for Genomics Research, Karolinska Institute, Stockholm, Sweden

Correspondence to: Anthony Brookes , Center for Genomics Research, Karolinska Institute, Theorells väg 3, S-171 77 Stockholm, Sweden. Tel: +46 8 728 6630; Fax: +46 8 331 547; E-mail:


There are great hopes that the most common form of human genetic variation, single nucleotide polymorphisms (SNPs), can be used to improve radically biological understanding and to advance medicine. However, considerable controversy exists over just how SNPs can be applied to gain these insights. The second international SNP meeting, held at Schloss Hohenkammer, Munich, Germany, brought together leading international scientists from academia and industry to look at these issues from a multidisciplinary perspective. Topics that were covered spanned SNP discovery, scoring technologies, population genetics, disease studies, commercial dimensions, pharmacogenomics, bioinformatics, and legal considerations. SNP discovery is picking up speed; The SNP Consortium (TSC) is set to produce 300 000 publicly available SNPs within 2 years. Improved technologies for scoring SNPs are reducing hands-on time and cost, although truly high-throughput methods are still lacking for genome-wide population-based studies. Large numbers of SNPs have already been analysed in diverse populations. The results emphasise the importance of considering population history when using SNPs to search for genetic risk factors. Opinions on the feasibility of extensive SNP-based analysis of complex disease vary. However, combining expertise from several fields will be key to achieving optimal utilization of SNPs. European Journal of Human Genetics (2000) 8, 154-156.


single nucleotide polymorphisms; association studies; complex disease; genotyping methods

Received 20 October 1999; revised 1 November 1999; accepted 11 November 1999
February 2000, Volume 8, Number 2, Pages 154-156
Table of contents    Previous  Abstract  Next   Article  PDF