genome-wide associations of gene expression variation in humans人类全基因组关联的基因表达的变化.pdfVIP

Genome-Wide Associations of Gene Expression Variation in Humans 1[ 1[ 2 1 3 3 Barbara E. Stranger , Matthew S. Forrest , Andrew G. Clark , Mark J. Minichiello , Samuel Deutsch , Robert Lyle , Sarah Hunt1 4 3 ´5,6 1* 1* , Brenda Kahl , Stylianos E. Antonarakis , Simon Tavare , Panagiotis Deloukas , Emmanouil T. Dermitzakis 1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom, 2 Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, United States of America, 3 Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland, 4 Illumina, Inc., San Diego, California, United States of America, 5 Department of Oncology, University of Cambridge, Hutchison/MRC Research Centre, Cambridge, United Kingdom, 6 Program in Molecular and Computational Biology, University of Southern California, Los Angeles, California, United States of America The exploration of quantitative variation in human populations has become one of the major priorities for medical genetics. The successful identification of variants that contribute to complex traits is highly dependent on reliable assays and genetic maps. We have performed a genome-wide quantitative trait analysis of 630 genes in 60 unrelated Utah residents with ancestry from Northern and Western Europe using the publicly available phase I data of the International HapMap project. The genes are located in regions of the human genome with elevated functional annotation and disease interest including the ENCODE regions spanning 1% of the genom