Accessing genetic variation: Genotyping single nucleotide polymorphisms

Authors
Citation
Ac. Syvanen, Accessing genetic variation: Genotyping single nucleotide polymorphisms, NAT REV GEN, 2(12), 2001, pp. 930-942
Citations number
138
Categorie Soggetti
Biology,"Molecular Biology & Genetics
Journal title
NATURE REVIEWS GENETICS
ISSN journal
14710056 → ACNP
Volume
2
Issue
12
Year of publication
2001
Pages
930 - 942
Database
ISI
SICI code
1471-0056(200112)2:12<930:AGVGSN>2.0.ZU;2-3
Abstract
Understanding the relationship between genetic variation and biological fun ction on a genomic scale is expected to provide fundamental new insights in to 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 identi fying large sets of SNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs. New genotyping m ethods that are high throughput, accurate and cheap are urgently needed for gaining full access to the abundant genetic variation of organisms.