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Toward genome-wide SNP genotyping
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
2005 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 37 Suppl, S5-S10 p.Article in journal (Other academic) Published
Abstract [en]

Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a demanding task, despite many recent advances in technology for the production of high-density microarrays. A key technical obstacle is the PCR amplification step, which is required to reduce the complexity of and gain sufficient sensitivity for genotyping SNPs in large, diploid genomes. The multiplexing level that can be achieved in PCR does not match that of current microarray-based methods, making PCR the limiting step in the assays. Highly multiplexed microarray systems for SNP genotyping have recently been developed by combining well-known reaction principles for DNA amplification and SNP genotyping in clever ways. These new methods offer the potential of genome-wide SNP mapping of genes involved in complex diseases in the foreseeable future, provided that issues related to selection of the optimal SNP markers, sample throughput and the cost of the assays can be addressed.

Place, publisher, year, edition, pages
2005. Vol. 37 Suppl, S5-S10 p.
Keyword [en]
Comparative Study, DNA-Directed DNA Polymerase, Genome, Genotype, Humans, Ligases, Oligonucleotide Array Sequence Analysis/methods, Polymerase Chain Reaction, Polymorphism; Single Nucleotide, Research Support; Non-U.S. Gov't
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-75362DOI: 10.1038/ng1558PubMedID: 15920530OAI: oai:DiVA.org:uu-75362DiVA: diva2:103272
Available from: 2006-02-06 Created: 2006-02-06 Last updated: 2017-12-14Bibliographically approved

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Syvänen, Ann-Christine

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