High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
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DOI：
10.1073/pnas.021506298
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发表时间：
2001-01-16
影响因子：
11.1
通讯作者：
Braun, A
中科院分区：
文献类型：
--
作者：
Buetow, KH;Edmonson, M;Braun, A
我们在这里描述了一个基于基因的单核苷酸多态性（SNP）的快速鉴定，测定开发和表征的系统。该系统将信息工具融合，该工具从公共表达的序列标签资源中挖掘候选SNP，并通过基于芯片基质辅助的激光解吸/电离飞行时间质谱平台来自动设计测定试剂。作为该系统概念的证明，迅速开发和验证了9,115个基于基因的SNP遗传标记的基因组的试剂集合。这些数据在基于基因的多态性集合中提供了对多态性模式的初步见解。
We describe here a system for the rapid identification, assay development, and characterization of gene-based single nucleotide polymorphisms (SNPs). This system couples informatics tools that mine candidate SNPs from public expressed sequence tag resources and automatically designs assay reagents with detection by a chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry platform. As a proof of concept of this system, a genomewide collection of reagents for 9,115 gene-based SNP genetic markers was rapidly developed and validated. These data provide preliminary insights into patterns of polymorphism in a genomewide collection of gene-based polymorphisms.