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SNPing in the human genome
Author(s): Carlson CS, Newman TL, Nickerson DA
Source: CURRENT OPINION IN CHEMICAL BIOLOGY    Volume: 5    Issue: 1    Pages: 78-85    Published: FEB 2001  
Times Cited: 38     References: 68     
Abstract: More than a million genetic markers in the form of single nucleotide polymorphisms are now available for use in genotype-phenotype studies in humans. The application of new strategies for representational cloning and sequencing from genomes combined with the mining of high-quality sequence variations in clone overlaps of genomic and/or cDNA sequences has played an important role in generating this new resource. The focus of variation analysis is now shifting from the identification of new markers to their typing in populations, and novel typing strategies are rapidly emerging. Assay readouts on oligonucleotide arrays, in microtiter plates, gels, flow cytometers and mass spectrometers have all been developed, but decreasing cost and increasing throughput of DNA typing remain key if high-density genetic maps are to be applied on a large scale.
Document Type: Review
Language: English
Reprint Address: Carlson, CS (reprint author), Univ Washington, Dept Mol Biotechnol, Box 357330, Seattle, WA 98195 USA
Addresses:
1. Univ Washington, Dept Mol Biotechnol, Seattle, WA 98195 USA
Publisher: CURRENT BIOLOGY LTD, 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND
Subject Category: Biochemistry & Molecular Biology; Biophysics
IDS Number: 403PK
ISSN: 1367-5931
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