Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Broad Institute · Brigham and Women's Hospital · +7 more institutions
Abstract
Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, another type of common genetic variation has been characterized, namely, structural variation, including copy number variants (CNVs). To determine the overall contribution of CNVs to complex phenotypes, we have performed association analyses of expression levels of 14,925 transcripts with SNPs and CNVs in individuals who are part of the International HapMap project. SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic variation in gene expression, respectively, but the signals from the two types of variation had…
Citation impact
- FWCI
- 93.63
- Percentile
- 100%
- References
- 30
Authors
17- BEBarbara E. Stranger
Broad Institute, Brigham and Women's Hospital, Harvard University, University of Cambridge, Wellcome Sanger Institute, Istituto Nazionale di Fisica Nucleare, Sezione di Bari, Istituto per le Tecnologie Didattiche, Massachusetts Institute of Technology
- MSMatthew S. Forrest
Broad Institute, Brigham and Women's Hospital, Harvard University, University of Cambridge, Wellcome Sanger Institute, Istituto Nazionale di Fisica Nucleare, Sezione di Bari, Istituto per le Tecnologie Didattiche, Massachusetts Institute of Technology
- MDMark Dunning
Broad Institute, Brigham and Women's Hospital, Harvard University, University of Cambridge, Wellcome Sanger Institute, Istituto Nazionale di Fisica Nucleare, Sezione di Bari, Istituto per le Tecnologie Didattiche, Massachusetts Institute of Technology
- CICatherine Ingle
Broad Institute, Brigham and Women's Hospital, Harvard University, University of Cambridge, Wellcome Sanger Institute, Istituto Nazionale di Fisica Nucleare, Sezione di Bari, Istituto per le Tecnologie Didattiche, Massachusetts Institute of Technology
- CBClaude Beazley
Broad Institute, Brigham and Women's Hospital, Harvard University, University of Cambridge, Wellcome Sanger Institute, Istituto Nazionale di Fisica Nucleare, Sezione di Bari, Istituto per le Tecnologie Didattiche, Massachusetts Institute of Technology
Topics & keywords
- Copy-number variation
- International HapMap Project
- Single-nucleotide polymorphism
- Biology
- Genetics
- Phenotype
- Genetic variation
- Structural variation
- Partnerships for the goals