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

Kenneth H. Buetow, Michael Edmonson, Richard MacDonald, Robert Clifford, Ping Yip, Jenny Kelley, Daniel P. Little, Robert Strausberg, Hubert Koester, Charles R. Cantor, Andreas Braun

Research output: Contribution to journalArticle

418 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)581-584
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume98
Issue number2
DOIs
StatePublished - Jan 16 2001
Externally publishedYes

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ASJC Scopus subject areas

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