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.98.2.581
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发表时间：
2001-01
影响因子：
11.1
通讯作者：
K. Buetow;Michael Edmonson;Richard Macdonald;R. Clifford;P. Yip;J. M. Kelley;D. Little;R. Strausberg-R
中科院分区：
文献类型：
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作者：
K. Buetow;Michael Edmonson;Richard Macdonald;R. Clifford;P. Yip;J. M. Kelley;D. Little;R. Strausberg-R
我们在这里描述了一个系统的快速识别，检测开发，并基于基因的单核苷酸多态性（SNP）的表征。该系统结合了从公开表达的序列标签资源中挖掘候选SNP的信息学工具，并通过基于芯片的基质辅助激光解吸/电离飞行时间质谱平台自动设计检测试剂。作为该系统概念的证明，快速开发和验证了用于9，115个基于基因的SNP遗传标记的全基因组试剂集合。这些数据提供了初步的见解，在全基因组收集的基因为基础的多态性的多态性模式。
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.