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Single nucleotide polymorphism seeking long term association with complex disease
Author(s) -
Brian W. Kirk,
Matthew Feinsod,
Reyna Favis,
Richard M. Kliman,
Francis Barany
Publication year - 2002
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/gkf466
Subject(s) - biology , linkage disequilibrium , single nucleotide polymorphism , genotyping , loss of heterozygosity , genetics , computational biology , genetic association , context (archaeology) , genome wide association study , allele , genotype , gene , paleontology
Successful investigation of common diseases requires advances in our understanding of the organization of the genome. Linkage disequilibrium provides a theoretical basis for performing candidate gene or whole-genome association studies to analyze complex disease. However, to constructively interrogate SNPs for these studies, technologies with sufficient throughput and sensitivity are required. A plethora of suitable and reliable methods have been developed, each of which has its own unique advantage. The characteristics of the most promising genotyping and polymorphism scanning technologies are presented. These technologies are examined both in the context of complex disease investigation and in their capacity to face the unique physical and molecular challenges (allele amplification, loss of heterozygosity and stromal contamination) of solid tumor research.

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