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Sequence features in regions of weak and strong linkage disequilibrium

Summary: Sequence features in regions of weak and strong
linkage disequilibrium
Albert V. Smith,1,2,5
Daryl J. Thomas,3,5,6
Heather M. Munro,4
Gonçalo R. Abecasis4
Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA; 2
Genthor ehf., 101 Reykjavik, Iceland; 3
Center for
Biomolecular Science and Engineering, University of California, Santa Cruz, California 95064, USA; 4
Center for Statistical
Genetics, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109, USA
We use genotype data generated by the International HapMap Project to dissect the relationship between sequence
features and the degree of linkage disequilibrium in the genome. We show that variation in linkage disequilibrium is
broadly similar across populations and examine sequence landscape in regions of strong and weak disequilibrium.
Linkage disequilibrium is generally low within 15 Mb of the telomeres of each chromosome and noticeably elevated
in large, duplicated regions of the genome as well as within 5 Mb of centromeres and other heterochromatic
regions. At a broad scale (100­1000 kb resolution), our results show that regions of strong linkage disequilibrium are


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


Collections: Biology and Medicine; Mathematics