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| Founded | 2000 |
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| Headquarters | Riia 23B, , |
Key people | Andres Metspalu (Director) |
| Website | www |
The Estonian Genome Project is a population-based biological database and biobank which was established in 2000 to improve public health in Estonia. It contains health records and biological specimens from a large percentage of the Estonian population.
In June 2000 the Estonian Genome Foundation introduced the Estonian government to the Estonian Genome Project, and lobbied for legislative changes and government support to make the project possible. [1] The project organizers invited input broadly from many sectors in planning to establish the EGF. [2] The project was also presented as a cultural investment towards strengthening national identity by contributing to global research. [3] At the time, many research teams were organizing similar projects, but this project was projected to be the world's largest. [4]
An early goal of the project was to collect biological specimens and health data from 70% of Estonia's population of 1.4 million within its first 10 years. [5] By 2004 the EGF had collected data from 10,000 people, and faced fiscal reorganization as they and their primary financier, EGeen, dissolved their partnership. [6] As of February 2014 the project had collected genes, questionnaire data on health (e.g. diet, lifestyle and clinical diagnoses) and GP standard health examinations from 52,000 adult gene donors and the aim had been adjusted downwards to collect genealogical, genome and health data from 5% of the population. [7] [8] The Estonian Genome Centre is based at the University of Tartu. [7]
Bioinformatics is an interdisciplinary field of science that develops methods and software tools for understanding biological data, especially when the data sets are large and complex. Bioinformatics uses biology, chemistry, physics, computer science, computer programming, information engineering, mathematics and statistics to analyze and interpret biological data. The subsequent process of analyzing and interpreting data is referred to as computational biology.
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.
Computational biology refers to the use of data analysis, mathematical modeling and computational simulations to understand biological systems and relationships. An intersection of computer science, biology, and big data, the field also has foundations in applied mathematics, chemistry, and genetics. It differs from biological computing, a subfield of computer science and engineering which uses bioengineering to build computers.
Biological databases are libraries of biological sciences, collected from scientific experiments, published literature, high-throughput experiment technology, and computational analysis. They contain information from research areas including genomics, proteomics, metabolomics, microarray gene expression, and phylogenetics. Information contained in biological databases includes gene function, structure, localization, clinical effects of mutations as well as similarities of biological sequences and structures.
UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure to the development of disease. It began in 2006.
The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust.
John Frederick William Birney is joint director of EMBL's European Bioinformatics Institute (EMBL-EBI), in Hinxton, Cambridgeshire and deputy director general of the European Molecular Biology Laboratory (EMBL). He also serves as non-executive director of Genomics England, chair of the Global Alliance for Genomics and Health (GA4GH) and honorary professor of bioinformatics at the University of Cambridge. Birney has made significant contributions to genomics, through his development of innovative bioinformatics and computational biology tools. He previously served as an associate faculty member at the Wellcome Trust Sanger Institute.
The Generic Model Organism Database (GMOD) project provides biological research communities with a toolkit of open-source software components for visualizing, annotating, managing, and storing biological data. The GMOD project is funded by the United States National Institutes of Health, National Science Foundation and the USDA Agricultural Research Service.
Mouse Genome Informatics (MGI) is a free, online database and bioinformatics resource hosted by The Jackson Laboratory, with funding by the National Human Genome Research Institute (NHGRI), the National Cancer Institute (NCI), and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). MGI provides access to data on the genetics, genomics and biology of the laboratory mouse to facilitate the study of human health and disease. The database integrates multiple projects, with the two largest contributions coming from the Mouse Genome Database and Mouse Gene Expression Database (GXD). As of 2018, MGI contains data curated from over 230,000 publications.
A biobank is a type of biorepository that stores biological samples for use in research. Biobanks have become an important resource in medical research, supporting many types of contemporary research like genomics and personalized medicine.
GeneNetwork is a combined database and open-source bioinformatics data analysis software resource for systems genetics. This resource is used to study gene regulatory networks that link DNA sequence differences to corresponding differences in gene and protein expression and to variation in traits such as health and disease risk. Data sets in GeneNetwork are typically made up of large collections of genotypes and phenotypes from groups of individuals, including humans, strains of mice and rats, and organisms as diverse as Drosophila melanogaster, Arabidopsis thaliana, and barley. The inclusion of genotypes makes it practical to carry out web-based gene mapping to discover those regions of genomes that contribute to differences among individuals in mRNA, protein, and metabolite levels, as well as differences in cell function, anatomy, physiology, and behavior.
John Quackenbush is an American computational biologist and genome scientist. He is a professor of biostatistics and computational biology and a professor of cancer biology at the Dana–Farber Cancer Institute (DFCI), as well as the director of its Center for Cancer Computational Biology (CCCB). Quackenbush also holds an appointment as a professor of computational biology and bioinformatics in the Department of Biostatistics at the Harvard School of Public Health.
A biological specimen is a biological laboratory specimen held by a biorepository for research. Such a specimen would be taken by sampling so as to be representative of any other specimen taken from the source of the specimen. When biological specimens are stored, ideally they remain equivalent to freshly-collected specimens for the purposes of research.
Biobank ethics refers to the ethics pertaining to all aspects of biobanks. The issues examined in the field of biobank ethics are special cases of clinical research ethics.
Translational bioinformatics (TBI) is a field that emerged in the 2010s to study health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics. Its focus is on applying informatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be utilized by scientists, clinicians, and patients. Furthermore, it involves applying biomedical research to improve human health through the use of computer-based information system. TBI employs data mining and analyzing biomedical informatics in order to generate clinical knowledge for application. Clinical knowledge includes finding similarities in patient populations, interpreting biological information to suggest therapy treatments and predict health outcomes.
Riin Tamm is an Estonian geneticist and a science popularizer. She is the head of the Department of Youth and Talent Policy within the Estonian Ministry of Education and Research. She has previously served as the director of University of Tartu Youth Academy.
Andres Metspalu is an Estonian geneticist and member of the Estonian Academy of Sciences.
Alan Christoffels is a bioinformatics scientist, academic, and an author. He is Professor of Bioinformatics, and the director of the South African National Bioinformatics Institute at the University of the Western Cape. He has been serving as a senior advisor to the Africa Centres for Disease Control and Prevention Pathogen genomics & Partnerships and DSI/NRF Research Chair in Bioinformatics and Public Health Genomics.
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