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GEN2PHEN
Genotype to Phenotype Databases: a Holistic Approach (GEN2PHEN) is a European project aiming to develop a knowledge web portal integrating information from the genotype to the phenotype in a unifying portal: The Knowledge Centre].http://www.iscb.org/uploaded/css/58/17288.pdf Summary and Objectives The GEN2PHEN project aims to unify human and model organism genetic variation databases towards increasingly holistic views into Genotype-To-Phenotype (G2P) data, and to link this system into other biomedical knowledge sources via genome browser functionality. The project will establish the technological building-blocks needed for the evolution of today’s diverse G2P databases into a future seamless G2P biomedical knowledge environment, by the projects end. This will consist of a European-centred but globally networked hierarchy of bioinformatics GRID-linked databases, tools and standards, all tied into the Ensembl genome browser. The project has the following specific objectives: * To a ...
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GWAS Central
GWAS Central (previously HGBASE, HGVbase and HGVbaseG2P) is a publicly available database of summary-level findings from genetic association studies in humans, including genome-wide association studies (GWAS). It is funded through the GEN2PHEN project by the European Union under their Seventh Framework Programme. Scope GWAS Central contains the most comprehensive collection of summary-level p-value GWAS data. The web resource employs powerful graphical and text based data presentation methods for discovery of and simultaneous visualisation and co-examination of many studies, at genome-wide and region-specific levels. Studies of interest can now be identified using chromosomal regions/genes and markers; there is also the facility for researchers to view their own data alongside selected studies. Current content includes ‘top’ p-values from collections; supplementary data; direct researcher submissions; and publicly available data. Consequently, the database now hosts >21 mi ...
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Leiden Open Variation Database
The Leiden Open Variation Database (LOVD) is a free, flexible web-based open source database developed in the Leiden University Medical Center in the Netherlands, designed to collect and display variants in the DNA sequence. The focus of an LOVD is usually the combination between a gene and a genetic (heritable) disease. All sequence variants found in individuals are collected in the database, together with information about whether they could be causally connected to the disease (i.e. a disease-causing variant or mutation) or not (i.e. a non-disease causing variant). Specialized doctors (clinical geneticists) use LOVDs to diagnose and advise patients carrying a genetic disease. Ideally, if a patient has been screened for mutations and one has been found, information in LOVD can predict the progress of the disease. In contrast to human genome databases, showing information on all DNA variants, LOVDs include information about the individuals in which the variants were found. This pa ...
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Locus Reference Genomic (LRG)
Locus Reference Genomic (LRG) is a DNA sequence format that was developed to aid in curating locus specific databases (LSDBs) that record DNA sequence variation which can result in inherited diseases. LRGs have fixed sequences that are independent of the genome so that they provide a stable framework for reporting variants. The LRG format uses extensible markup language (XML) to provide highly structured single records containing the genomic DNA sequence for individual genes along with the mRNAs and proteins encoded by these genes. LRG records are recommended in thHuman Genome Variation Society Nomenclature guidelinesas reference sequences to report sequence variants in LSDBs and the literature. The LRG concept was developed by thGEN2PHEN projectin conjunction with the European Bioinformatics Institute (EBI) and the National Center for Biotechnology Information The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (N ...
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Genotype
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous. Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the petal color in a pea plant is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. Howev ...
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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ...
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Swiss Institute Of Bioinformatics
The SIB Swiss Institute of Bioinformatics is an academic not-for-profit foundation which federates bioinformatics activities throughout Switzerland. The institute was established on 30 March 1998 and its mission is to provide core bioinformatics resources to the national and international life science research community in fields such as genomics, proteomics and systems biology as well as to lead and coordinate the field of bioinformatics in Switzerland. In particular, it promotes research, develops databanks and computer technologies, and is involved in teaching and service activities. History The institute was originally created to provide a framework for stable long-term funding for both the Swiss-Prot database and the Swiss EMBnet node. Swiss-Prot in particular went through a major funding crisis in 1996, which led the leaders of the five research groups active in bioinformatics in Geneva and Lausanne, Ron Appel, Amos Bairoch, Philipp Bucher, Victor Jongeneel a ...
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Switzerland
). Swiss law does not designate a ''capital'' as such, but the federal parliament and government are installed in Bern, while other federal institutions, such as the federal courts, are in other cities (Bellinzona, Lausanne, Luzern, Neuchâtel, St. Gallen a.o.). , coordinates = , largest_city = Zürich , official_languages = , englishmotto = "One for all, all for one" , religion_year = 2020 , religion_ref = , religion = , demonym = , german: Schweizer/Schweizerin, french: Suisse/Suissesse, it, svizzero/svizzera or , rm, Svizzer/Svizra , government_type = Federalism, Federal assembly-independent Directorial system, directorial republic with elements of a direct democracy , leader_title1 = Federal Council (Switzerland), Federal Council , leader_name1 = , leader_title2 = , leader_name2 = Walter Thurnherr , legislature = Fe ...
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Databases In Europe
In computing, a database is an organized collection of data stored and accessed electronically. Small databases can be stored on a file system, while large databases are hosted on computer clusters or cloud storage. The design of databases spans formal techniques and practical considerations, including data modeling, efficient data representation and storage, query languages, security and privacy of sensitive data, and distributed computing issues, including supporting concurrent access and fault tolerance. A database management system (DBMS) is the software that interacts with end users, applications, and the database itself to capture and analyze the data. The DBMS software additionally encompasses the core facilities provided to administer the database. The sum total of the database, the DBMS and the associated applications can be referred to as a database system. Often the term "database" is also used loosely to refer to any of the DBMS, the database system or an application ...
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Genetics Databases
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the context o ...
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Genomics
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 ...
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Online Databases
An online database is a database accessible from a local network or the Internet, as opposed to one that is stored locally on an individual computer or its attached storage (such as a CD). Online databases are hosted on websites, made available as software as a service products accessible via a web browser. They may be free or require payment, such as by a monthly subscription. Some have enhanced features such as collaborative editing and email notification. Cloud database A cloud database is a database that is run on and accessed via the Internet, rather than locally. So, rather than keep a customer information database at one location, a business may choose to have it hosted on the Internet so that all its departments or divisions can access and update it. Most database services offer web-based consoles, which the end user can use to provision and configure database instances. See also * List of online databases ** Bibliographic databases * Customer relationship management * List ...
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