title: Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem.
abstract: 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.
authors.affiliation: Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Isaksson
authors.forename: U
authors.initials: U
authors.lastname: Landegren
authors.forename: A C
authors.initials: AC
authors.lastname: Syvänen
authors.forename: P
authors.initials: P
authors.lastname: Bork
authors.forename: C
authors.initials: C
authors.lastname: Stein
authors.forename: F
authors.initials: F
authors.lastname: Ortigao
authors.forename: A J
authors.initials: AJ
authors.lastname: Brookes
mesh_terms: D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*