Journal ArticleDOI
Accessing genetic variation: genotyping single nucleotide polymorphisms
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TLDR
The hope that single nucleotide polymorphisms will allow genes that underlie complex disease to be identified, together with progress in identifying large sets ofSNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs.Abstract:
Understanding the relationship between genetic variation and biological function on a genomic scale is expected to provide fundamental new insights into the biology, evolution and pathophysiology of humans and other species. The hope that single nucleotide polymorphisms (SNPs) will allow genes that underlie complex disease to be identified, together with progress in identifying large sets of SNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs. New genotyping methods that are high throughput, accurate and cheap are urgently needed for gaining full access to the abundant genetic variation of organisms.read more
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References
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Book ChapterDOI
Using oligonucleotide probe arrays to access genetic diversity
Robert J. Lipshutz,Don Morris,Mark S. Chee,Earl Hubbell,Michael J. Kozal,Nila Shah,N. Shen,Ruigang Yang,Stephen P. A. Fodor +8 more
TL;DR: Results from this application strongly suggest that oligonucleotide probe arrays will be a powerful tool for rapid investigations in sequence checking, pathogen detection, expression monitoring and DNA molecular recognition.
Journal ArticleDOI
A System for Specific, High-throughput Genotyping by Allele-specific Primer Extension on Microarrays
Tomi Pastinen,Mirja Raitio,Katarina Lindroos,Päivi Tainola,Leena Peltonen,Ann-Christine Syvänen +5 more
TL;DR: The general accessibility, simple set-up, and the robust procedure of the array-based genotyping system described here will offer an easy way to increase the throughput of SNP typing in any molecular biology laboratory.
Journal ArticleDOI
Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse.
Kerstin Lindblad-Toh,Ellen Winchester,Mark J. Daly,David G. Wang,David G. Wang,Joel N. Hirschhorn,Joel N. Hirschhorn,Jean-Philippe Laviolette,Kristin G. Ardlie,David Reich,Elizabeth M. Robinson,Pamela Sklar,Pamela Sklar,Nila Shah,Daryl J. Thomas,Jian-Bing Fan,Thomas R. Gingeras,Janet A. Warrington,Nila Patil,Thomas J. Hudson,Thomas J. Hudson,Eric S. Lander +21 more
TL;DR: A large-scale analysis of SNPs in the mouse genome and identifies a collection of 2,848 SNPs located in 1,755 sequence-tagged sites (STSs) using high-density oligonucleotide arrays, providing a first-generation SNP map of the mouse.
Journal ArticleDOI
High-Throughput SNP Allele-Frequency Determination in Pooled DNA Samples by Kinetic PCR
TL;DR: By providing a means for SNP genotyping up to thousands of samples simultaneously, inexpensively, and reproducibly, this method is a powerful strategy for detecting meaningful polymorphic differences in candidate gene association studies and genome-wide linkage disequilibrium scans.
Journal ArticleDOI
Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay
Deborah A. Nickerson,Robert J. Kaiser,Stephen Lappin,Jason A. Stewart,Leroy Hood,Ulf Landegren +5 more
TL;DR: The automated PCR/OLA strategy provides a rapid system for diagnosis of genetic, malignant, and infectious diseases as well as a powerful approach to genetic linkage mapping of chromosomes and forensic DNA typing.
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