Genotyping Technologies for Genetic Research

被引：141

作者：

Ragoussis, Jiannis ^{[1
]}

机构：

[1] Univ Oxford, Genom Lab, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2009年 / 10卷

关键词：

whole-genome association; GeneChip; Beadchip; P CNV; molecular haplotyping; GENOME-WIDE ASSOCIATION; COPY NUMBER VARIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; HIDDEN-MARKOV MODEL; STRUCTURAL VARIATION; SEQUENCE VARIANT; COST EFFICIENCY; HAPLOTYPE MAP; RISK LOCI; SNP ARRAY;

D O I：

10.1146/annurev-genom-082908-150116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The past few years have seen enormous advances in genotyping technology, including chips that accommodate in excess of 1 million SNP assays. In addition, the cost per genotype has been driven down to levels unimagined only a few years ago. These developments have resulted in an explosion of positive whole-genome association studies and the identification of many new genes for common diseases. Here 1 review high-throughput genotyping platforms as well as other approaches for lower numbers of assays but high sample throughput, which play an important role in genotype validation and study replication. Further, the utility of SNP arrays for detecting structural variation through the development of genotyping algorithms is reviewed and methods for long-range haplotyping are presented. It is anticipated that in the future, sample throughput and cost savings will be increased further through the combination of automation, microfluidics, and nanotechnologies.

引用

页码：117 / 133

页数：17

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