Relative impact of nucleotide and copy number variation on gene expression phenotypes
- Author
- STRANGER, Barbara E1 ; FORREST, Matthew S1 ; TYLER-SMITH, Chris1 ; CARTER, Nigel1 ; SCHERER, Stephen W6 7 ; TAVARE, Simon2 8 ; DELOUKAS, Panagiotis1 ; HURLES, Matthew E1 ; DERMITZAKIS, Emmanouil T1 ; DUNNING, Mark2 ; INGLE, Catherine E1 ; BEAZLEY, Claude1 ; THORNE, Natalie2 ; REDON, Richard1 ; BIRD, Christine P1 ; DE GRASSI, Anna3 ; LEE, Charles4 5
[1] Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 ISA, United Kingdom
[2] Department of Oncology, University of Cambridge, Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, United Kingdom
[3] Istituto di Tecnologie Biomediche-Sezione di Bari, Consigtio Nazio nale della Ricerche (CNR), 70126 Bari, Italy
[4] Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, United States
[5] Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, United States
[6] The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada
[7] Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada
[8] Program in Molecular and Computational Biology, University of Southern California, Los Angeles, CA 90089-2910, United States - Source
Science (Washington, D.C.). 2007, Vol 315, Num 5813, pp 848-853, 6 p
- CODEN
- SCIEAS
- ISSN
- 0036-8075
- Scientific domain
- Multidisciplinary
- Publisher
- American Association for the Advancement of Science, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Expression génique Homme Maladie héréditaire Nombre copie Phénotype Polymorphisme mononucléotide Variation du nombre de copies
- Keyword (en)
- Gene expression Human Genetic disease Copy number Phenotype Single nucleotide polymorphism
- Keyword (es)
- Expresión genética Hombre Enfermedad hereditaria Número copia Fenotipo Polimorfismo mononucleótido
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18550445
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1126/science.1136678 
https://dx.doi.org/10.1126/science.1136678
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