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Research Genetics of Complex Traits in Humans

By Panos Deloukas

Abstract

The genome sequence provides the basis to examine both the extent of sequence variation in human populations and the functional consequences of specific variants in their contribution to complex traits including common disease and response to external stimuli (e.g. drugs). To this end we have made contributions first to the Human Genome Project by assembling the sequence map of chromosomes 10 and 20 and then to the International HapMap project by building SNP maps for quarter of the genome in four populations. The study of the genetic architecture of the genome in human populations (e.g linkage disequilibrium, recombination and selection) is an active area of research. The availability of resources like the HapMap with over four million mapped variants coupled with advances in array technology have enabled the conduct of large-scale association studies to identify disease genes. We have set up a high-throughput facility for genotyping and expression analysis undertaking genetic studies of common diseases such as type 2 diabetes, cardiovascular, obesity and malaria as well as pharmacogenetic studies of the anticoagulant drug warfarin. Whole genome association studies in large, well-phenotyped collections are finding disease genes; we have reported several new loci as part of the Wellcom

Year: 2012
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