Objective Gene expression is one of the marks of cellular state and function. The relative abundance of transcripts defines and is a result of the differentiation status of a cell. Interrogation of gene expression levels and patterns in the human and other genomes can be informative about perturbations from the average pattern due to external stimuli or internal factors such as genetic variants. Gene expression profiles have been extensively used to assess developmental processes, pathways contributing to cell differentiation, and predicting the outcome of disease status.Understanding the effects of genetic variation in basic cellular processes such as gene expression is key to the dissection of the genetic contributions to whole organism phenotypes.We propose to interrogate the transcriptome of primary fibroblasts, primary T-cells and EBV-transformed B-cell (lymphoblastoid cell lines or LCLs) from umbilical cords of 200 individuals of European descent using next generation sequencing (mRNAseq). A subset will also be interrogated for transcriptionally engaged RNA polymerases (GROseq) and protein abundance. These data will be analyzed for the detection of eQTLs and other genetic effects associated with variation in alternative splicing and other properties of the transcripts and dissection of the genetic effects from primary transcription to protein and their tissue specific effects. These data will be integrated with genome-wide association studies and other efforts to dissect the genetic basis of complex traits and diseases in humans. In addition, we will develop bioinformatic models to understand the fine scale regulatory signals that are responsible for the regulatory patterns observed and how sequence variants have an effect on them. Fields of science natural sciencesbiological sciencesbiochemistrybiomoleculesproteinsnatural sciencesbiological sciencesgeneticsRNAnatural sciencesbiological sciencesgeneticsgenomes Programme(s) FP7-IDEAS-ERC - Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Topic(s) ERC-SG-LS2 - ERC Starting Grant - Genetics,Genomics,Bioinformatics and Systems Biology Call for proposal ERC-2010-StG_20091118 See other projects for this call Funding Scheme ERC-SG - ERC Starting Grant Host institution UNIVERSITE DE GENEVE EU contribution € 1 500 000,00 Address RUE DU GENERAL DUFOUR 24 1211 Geneve Switzerland See on map Region Schweiz/Suisse/Svizzera Région lémanique Genève Activity type Higher or Secondary Education Establishments Administrative Contact Alex Waehry (Mr.) Principal investigator Emmanouil Dermitzakis (Prof.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data Beneficiaries (1) Sort alphabetically Sort by EU Contribution Expand all Collapse all UNIVERSITE DE GENEVE Switzerland EU contribution € 1 500 000,00 Address RUE DU GENERAL DUFOUR 24 1211 Geneve See on map Region Schweiz/Suisse/Svizzera Région lémanique Genève Activity type Higher or Secondary Education Establishments Administrative Contact Alex Waehry (Mr.) Principal investigator Emmanouil Dermitzakis (Prof.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data
