SNPing in the human genome

被引：46

作者：

Carlson, CS ^{[1
]}

Newman, TL ^{[1
]}

Nickerson, DA ^{[1
]}

机构：

[1] Univ Washington, Dept Mol Biotechnol, Seattle, WA 98195 USA

来源：

CURRENT OPINION IN CHEMICAL BIOLOGY | 2001年 / 5卷 / 01期

关键词：

D O I：

10.1016/S1367-5931(00)00171-X

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

More than a million genetic markers in the form of single nucleotide polymorphisms are now available for use in genotype-phenotype studies in humans. The application of new strategies for representational cloning and sequencing from genomes combined with the mining of high-quality sequence variations in clone overlaps of genomic and/or cDNA sequences has played an important role in generating this new resource. The focus of variation analysis is now shifting from the identification of new markers to their typing in populations, and novel typing strategies are rapidly emerging. Assay readouts on oligonucleotide arrays, in microtiter plates, gels, flow cytometers and mass spectrometers have all been developed, but decreasing cost and increasing throughput of DNA typing remain key if high-density genetic maps are to be applied on a large scale.

引用

页码：78 / 85

页数：8

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