论文信息 - High-throughput methods for SNP genotyping.

High-throughput methods for SNP genotyping.

Single nucleotide polymorphisms (SNPs) are ideal markers for identifying genes associated with complex diseases for two main reasons. Firstly, SNPs are densely located on the human genome at about one SNP per approximately 500-1,000 base pairs. Secondly, a large number of commercial platforms are available for semiautomated or fully automated SNP genotyping. These SNP genotyping platforms serve different purposes since they differ in SNP selection, reaction chemistry, signal detection, throughput, cost, and assay flexibility. This chapter aims to give an overview of some of these platforms by explaining the technologies behind each platform and identifying the best application scenarios for each platform through cross-comparison. The readers may delve into more technical details in the following chapters.

Shengnan Jin | Chunming Ding | C. Ding | Shengnan Jin | Chunming Ding

[1] Hanna Göransson,et al. Screening for copy‐number alterations and loss of heterozygosity in chronic lymphocytic leukemia—A comparative study of four differently designed, high resolution microarray platforms , 2008, Genes, chromosomes & cancer.

[2] Bba,et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene , 2005, Journal of Medical Genetics.

[3] K. Becker,et al. The Genetic Association Database , 2004, Nature Genetics.

[4] Ronald W. Davis,et al. Multiplexed genotyping with sequence-tagged molecular inversion probes , 2003, Nature Biotechnology.

[5] Chunming Ding,et al. 'Other' applications of single nucleotide polymorphisms. , 2007, Trends in biotechnology.

[6] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.

[7] Janel O. Johnson,et al. α-Synuclein Locus Triplication Causes Parkinson's Disease , 2003, Science.

[8] J. Nadeau,et al. Finding Genes That Underlie Complex Traits , 2002, Science.

[9] Lude Franke,et al. Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen , 2008, The Lancet Neurology.

[10] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.

[11] H. Shin,et al. Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population. , 2008, Biochemical and biophysical research communications.