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Large-scale phenotyping of aneuploidy mouse models: Integration of Aneuploidy databases David Fernández, Ignasi Sahún, Mara Dierssen Center for Genomic Regulation-Barcelona Biomedical Research Park Introduction Website structure Aneuploidy refers to abnormal copy number of genomic elements, and is one of the most common causes in morbidity and mortality in human populations. The Aneuploidy project has the goals of contributing to the understanding of the molecular basis and pathogenetic mechanisms of aneuploidies. The experimental strategies proposed combine technics in human genomics, mouse models and expression studies. In addition it builds on the excellence and competitiveness of European laboratories in the field of aneuploidy. WP5 website WP5 website <admin> Tissue requests Mouse models Tissue collection Phenotyping Phenotype requests Shared existing models Tissue collection protocols Phenotyping Mouse models Mouse models DB Workpackage 5 The goal of WP5 is to make use of mouse models to understand the phenotypic consequences of gene dosage imbalance and to elucidate the role of particular chromosomal regions or specific genes in the pathogenesis of aneuploid syndromes. To this end we perform large-scale phenotyping (primary and secondary levels) and expression studies. Tissue collection Phenotyping DB Tissue request Phenotype request Phenotype DB Phenotyping protocols Services/ Equipment Website databases • Mouse models • Tissue requests • Phenotyping request • Phenotype database Workflow Mice data: health report, mice identifiers, date of birth,... (experimenter) Mouse model description (experimenter) Mouse model Mouse Model DB New phenotype request Website objectives The objectives of the website is to track WP5 activities so all information became available through Internet*. It also provide the web tools to upload the information of mouse models (in EMMA format) request phenotypical analysis (phenotype request conditions, mice description, health report, etc.) and tissue requests. All requests are logged so it’s possible to do WP5 statistics: phenotyping requests per year, number of tissue requests, etc. CRG facilities Key-Obs facilities Secondary level results (Excel file) Primary level results (Excel file) Web parser (Java Servlet) The Phenotypic Database provides the tools for analytical management and storage of data from the Phenotyping Facilities. XML* It allows cross-talk with genomic/transcriptomic/proteomic databases within the consortium. WP5 Phenotype DB *Data information will be pass protected as needed Benefits of a website Information displayed on a website is available from any kind of computer with an internet connection. Data can be exchanged between partners in real time. Analytical processing is satandarized and common ontologies are generated for all mouse models and phenotyping protocols. The Aneuploid database is devoted to comparative phenomics in aneuploid syndromes and will improve our understanding of aneuploidy by combining the knowledge about phenotypes from mouse models. Technical information Key-Obs and CRG provide Excel files associated to a mouse model with the experiments raw data that are uploaded to the website and then parsed in a Java Servlet to do summary and statistical levels of visibility. Once parsed, a mouse model will have an author description, a summary information, a statistical results and raw data available throught the website.