Relative impact of nucleotide and copy number variation on gene expression phenotypes. Export

@article{citeulike:1097231, 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 little overlap. Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans.}, author = {Stranger, Barbara E. and Forrest, Matthew S. and Dunning, Mark and Ingle, Catherine E. and Beazley, Claude and Thorne, Natalie and Redon, Richard and Bird, Christine P. and de Grassi, Anna and Lee, Charles and Tyler-Smith, Chris and Carter, Nigel and Scherer, Stephen W. and Tavar\'{e}, Simon and Deloukas, Panagiotis and Hurles, Matthew E. and Dermitzakis, Emmanouil T.}, citeulike-article-id = {1097231}, citeulike-linkout-0 = {http://dx.doi.org/10.1126/science.1136678}, citeulike-linkout-1 = {http://www.sciencemag.org/cgi/content/abstract/315/5813/848}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/17289997}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=17289997}, day = {9}, doi = {10.1126/science.1136678}, issn = {1095-9203}, journal = {Science (New York, N.Y.)}, keywords = {association, expression, genetics, human}, month = {February}, number = {5813}, pages = {848--853}, posted-at = {2009-11-05 10:44:39}, priority = {2}, title = {Relative impact of nucleotide and copy number variation on gene expression phenotypes.}, url = {http://dx.doi.org/10.1126/science.1136678}, volume = {315}, year = {2007} }

TY - JOUR ID - citeulike:1097231 L3 - citeulike-article-id:1097231 N2 - 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 little overlap. Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans. IS - 5813 JF - Science (New York, N.Y.) SN - 1095-9203 EP - 853 TI - Relative impact of nucleotide and copy number variation on gene expression phenotypes. VL - 315 SP - 848 KW - association KW - expression KW - genetics KW - human AU - Stranger, Barbara AU - Forrest, Matthew AU - Dunning, Mark AU - Ingle, Catherine AU - Beazley, Claude AU - Thorne, Natalie AU - Redon, Richard AU - Bird, Christine AU - de Grassi, Anna AU - Lee, Charles AU - Tyler-Smith, Chris AU - Carter, Nigel AU - Scherer, Stephen AU - Tavaré, Simon AU - Deloukas, Panagiotis AU - Hurles, Matthew AU - Dermitzakis, Emmanouil PY - 2007/02/09/ UR - http://dx.doi.org/10.1126/science.1136678 ER -