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

通过基于芯片的基质辅助激光解吸/电离飞行时间质谱法对全基因组的基于基因的单核苷酸多态性标记进行高通量开发和表征

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作者:K H Buetow, M Edmonson, R MacDonald, R Clifford, P Yip, J Kelley, D P Little, R Strausberg, H Koester, C R Cantor, A Braun

Abstract

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.

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