Literature DB >> 11005795

Single nucleotide polymorphisms as tools in human genetics.

I C Gray1, D A Campbell, N K Spurr.   

Abstract

The development of detailed single nucleotide polymorphism (SNP) maps of the human genome coupled with high-throughput genotyping technologies may allow us to unravel complex genetic traits, such as multifactorial disease or drug response, over the next few years. Here we describe the current efforts to identify and characterize the large numbers of SNPs required and discuss the practicalities of association studies for the identification of genes involved in complex traits.

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Year:  2000        PMID: 11005795     DOI: 10.1093/hmg/9.16.2403

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  54 in total

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3.  SNP genotyping by multiplexed solid-phase amplification and fluorescent minisequencing.

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5.  An approach for global scanning of single nucleotide variations.

Authors:  Xinghua Pan; Sherman M Weissman
Journal:  Proc Natl Acad Sci U S A       Date:  2002-07-01       Impact factor: 11.205

6.  2b-RAD: a simple and flexible method for genome-wide genotyping.

Authors:  Shi Wang; Eli Meyer; John K McKay; Mikhail V Matz
Journal:  Nat Methods       Date:  2012-05-20       Impact factor: 28.547

7.  Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci.

Authors:  Austin L Hughes; Bernice Packer; Robert Welch; Andrew W Bergen; Stephen J Chanock; Meredith Yeager
Journal:  Genetics       Date:  2005-05-23       Impact factor: 4.562

8.  Pharmacogenetics of epilepsy: one step forward?

Authors:  Graeme J Sills
Journal:  Epilepsy Curr       Date:  2005 Nov-Dec       Impact factor: 7.500

9.  Novel hairpin-shaped primer assay to study the association of the -44 single-nucleotide polymorphism of the DEFB1 gene with early-onset periodontal disease.

Authors:  Michele Boniotto; Manzour Hernando Hazbón; William James Jordan; Greig Patrick Lennon; Joyce Eskdale; David Alland; Grant Gallagher
Journal:  Clin Diagn Lab Immunol       Date:  2004-07

10.  Widespread purifying selection at polymorphic sites in human protein-coding loci.

Authors:  Austin L Hughes; Bernice Packer; Robert Welch; Andrew W Bergen; Stephen J Chanock; Meredith Yeager
Journal:  Proc Natl Acad Sci U S A       Date:  2003-12-05       Impact factor: 11.205

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