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Using haplotype blocks to map human complex trait loci

Summary: Using haplotype blocks to map human
complex trait loci
Lon R. Cardon1
and Gonc¸alo R. Abecasis2
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Department of Biostatistics, University of Michigan, Center for Statistical Genetics, 1420 Washington Heights,
University of Michigan Ann Arbor, MI 48109-2029, Michigan, USA
Understanding of linkage disequilibrium (LD) in human
populations could facilitate the discovery of genes that
influence complex human diseases. The `HapMap' pro-
ject is now underway to characterize patterns of LD in
the human genome. A pilot study showed `haplotype
blocks' in 51 regions scattered throughout the genome.
These intriguing results raise important questions
about the nature of recombination, and highlight prac-
tical issues of marker collection, the influence of stat-
istical modelling on apparent block structure, and the
levels of genotyping necessary for studies of common


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics