Syvänen A C
Department of Medical Sciences - Molecular Medicine, Uppsala University, University Hospital, 75185 Uppsala, Sweden.
Nat Rev Genet. 2001 Dec;2(12):930-42. doi: 10.1038/35103535.
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.
在基因组规模上理解遗传变异与生物学功能之间的关系，有望为人类及其他物种的生物学、进化和病理生理学提供全新的基本见解。单核苷酸多态性（SNP）能够用于识别复杂疾病相关基因的希望，以及在识别大量SNP方面取得的进展，是大力开展SNP大规模分析技术研究的驱动力。为了全面了解生物体丰富的遗传变异，迫切需要高通量、准确且廉价的新型基因分型方法。
