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 | Zendy

Kenneth H. Buetow | Zendy; Michael N. Edmonson | Zendy; Richard MacDonald | Zendy; Robert Clifford | Zendy; Ping Yip | Zendy; Jenny M. Kelley | Zendy; Daniel P. Little | Zendy; Robert L. Strausberg | Zendy; H. Koester | Zendy; Charles R. Cantor | Zendy; Andreas Braun | Zendy

Open Access

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

Author(s) -

Kenneth H. Buetow,

Michael N. Edmonson,

Richard MacDonald,

Robert Clifford,

Ping Yip,

Jenny M. Kelley,

Daniel P. Little,

Robert L. Strausberg,

H. Koester,

Charles R. Cantor,

Andreas Braun

Publication year - 2001

Publication title -

proceedings of the national academy of sciences

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.011

H-Index - 771

eISSN - 1091-6490

pISSN - 0027-8424

DOI - 10.1073/pnas.98.2.581

Subject(s) - single nucleotide polymorphism , snp genotyping , mass spectrometry , snp , computational biology , genotyping , molecular inversion probe , biology , genetics , gene , chemistry , genotype , chromatography

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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