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Nat Rev Genet. 2001 Dec;2(12):930-42.

Accessing genetic variation: genotyping single nucleotide polymorphisms.

Author information

  • Department of Medical Sciences - Molecular Medicine, Uppsala University, University Hospital, 75185 Uppsala, Sweden. Ann-Christine.Syvanen@medsci.uu.se

Abstract

Understanding the relationship between genetic variation and biological function on a genomic scale is expected to provide fundamental new insights into the biology, evolution and pathophysiology of humans and other species. The hope that single nucleotide polymorphisms (SNPs) will allow genes that underlie complex disease to be identified, together with progress in identifying large sets of SNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs. New genotyping methods that are high throughput, accurate and cheap are urgently needed for gaining full access to the abundant genetic variation of organisms.

PMID:
11733746
[PubMed - indexed for MEDLINE]
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