publication . Other literature type . Article . 2005

Definition and Clinical Importance of Haplotypes

Deborah A. Nickerson; Dana C. Crawford;
Open Access
  • Published: 01 Feb 2005
  • Publisher: Annual Reviews
Abstract
Advances in genotyping and sequencing technologies, coupled with the development of sophisticated statistical methods, have afforded investigators novel opportunities to define the role of sequence variation in the development of common human diseases. At the forefront of these investigations is the use of dense maps of single-nucleotide polymorphisms (SNPs) and the haplotypes derived from these polymorphisms. Here we review basic concepts of high-density genetic maps of SNPs and haplotypes and how they are typically generated and used in human genetic research. We also provide useful examples and tools available for researchers interested in incorporating haplo...
Subjects
free text keywords: General Biochemistry, Genetics and Molecular Biology, General Medicine, Computational biology, Linkage disequilibrium, Tag SNP, SNP genotyping, Imputation (genetics), Genotyping, Haplotype, Genetics, Haplotype estimation, International HapMap Project, Biology
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