The effect of single-nucleotide polymorphism marker selection on patterns of haplotype blocks and haplotype frequency estimates.

ABSTRACT: The definition of haplotype blocks of single-nucleotide polymorphisms (SNPs) has been proposed so that the haplotypes can be used as markers in association studies and to efficiently describe human genetic variation. The International Haplotype Map (HapMap) project to construct a comprehensive catalog of haplotypic variation in humans is underway. However, a number of factors have already been shown to influence the definition of blocks, including the population studied and the sample SNP density. Here, we examine the effect that marker selection has on the definition of blocks and the pattern of haplotypes by using comparable but complementary SNP sets and a number of block definition methods in various genomic regions and populations that were provided by the Encyclopedia of DNA Elements

SUBMITTER: Nothnagel M 

PROVIDER: S-EPMC1285181 | biostudies-literature | 2005 Dec

REPOSITORIES: biostudies-literature