Relative impact of nucleotide and copy number variation on gene phenotypes

Science

Volumn 315, Issue 5813, 2007, Pages 848-853

  Stranger, Barbara E ^a   Forrest, Matthew S ^a   Dunning, Mark ^b   Ingle, Catherine E ^a   Beazlsy, Claude ^a   Thorne, Natalie ^b   Redon, Richard ^a   Bird, Christine P ^a   De Grassi, Anna ^c   Lee, Charles ^d,e   Tyler Smith, Chris ^a   Carter, Nigel ^a   Scherer, Stephen W ^f,g   Tavaré, Simon ^b,h   Deloukas, Panagiotis ^a   Hurles, Matthew E ^a   Dermitzakis, Emmanouil T ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c CNR   (Italy)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE EXPRESSION; GENETIC ANALYSIS; GENETIC VARIATION; GENOMICS; PHENOTYPE;

ARTICLE; GENE EXPRESSION; GENE STRUCTURE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MEDICAL GENETICS; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CELL LINE; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENETICS, POPULATION; GENOME, HUMAN; GENOMICS; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MUTATION; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REGRESSION ANALYSIS; VARIATION (GENETICS);

EID: 33846978695     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1136678     Document Type: Article

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32. We thank A. Clark and J. Pritchard for comments on earlier versions of the manuscript; M. Smith for assistance with software development; and M. Gibbs, J. Orwick, and C. Gerringer for technical support. Funding was provided by the Wellcome Trust to E.T.D., M.E.H., P.D., C.T.S., and N.C.; NIH to E.T.D. and S.T.; Cancer Research U.K. to S.T. and N.T.; the Leukemia and Lymphoma Society and the Brigham and Women's Hospital Department of Pathology to C.L.; and the U.K. Medical Research Council (MRC) to M.D. S.T. is a Royal Society Wolfson Research Merit Award holder. S.W.S. is supported by grants from Genome Canada/Ontario Genomics Institute and is a Scholar of the Canadian Institutes of Health Research and the Howard Hughes Medical Institute.