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 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

417 Citations (Scopus)

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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Single Nucleotide Polymorphism
Mass Spectrometry
Lasers
Genes
Informatics
Expressed Sequence Tags
Genetic Markers

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

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

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 98, No. 2, 16.01.2001, p. 581-584.

Research output: Contribution to journalArticle

Buetow, Kenneth ; Edmonson, Michael ; MacDonald, Richard ; Clifford, Robert ; Yip, Ping ; Kelley, Jenny ; Little, Daniel P. ; Strausberg, Robert ; Koester, Hubert ; Cantor, Charles R. ; Braun, Andreas. / 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. In: Proceedings of the National Academy of Sciences of the United States of America. 2001 ; Vol. 98, No. 2. pp. 581-584.
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