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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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Database
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 appli ...
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European Molecular Biology Laboratory
The European Molecular Biology Laboratory (EMBL) is an intergovernmental organization dedicated to molecular biology research and is supported by 27 member states, two prospect states, and one associate member state. EMBL was created in 1974 and is funded by public research money from its member states. Research at EMBL is conducted by approximately 110 independent research and service groups and teams covering the spectrum of molecular biology and bioinformatics. The list of Groups and Teams at EMBL can be found at . The Laboratory operates from six sites: the main laboratory in Heidelberg, and sites in Hinxton (the European Bioinformatics Institute (EBI), in England), Grenoble (France), Hamburg (Germany), Rome (Italy) and Barcelona (Spain). EMBL groups and laboratories perform basic research in molecular biology and molecular medicine as well as train scientists, students, and visitors. The organization aids in the development of services, new instruments and methods, and techn ...
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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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Genetic Epidemiology
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups. Definition The use of the term ''Genetic epidemiology'' emerged in the mid-1980s as a new scientific field. In formal language, genetic epidemiology was defined by Newton Morton, one of the pioneers of the field, as "a science which deals with the etiology, distribution, and control of disease in groups of relatives and with inherited causes of disease in populations". It is closely allied to both molecular epidemiology and statistical genetics, but these overlapping fields each have distinct emphases, societies and journals. One definition of the field closely follows that of behavior genetics, defining genetic epidemiology as "the scientific discipline that deals w ...
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Software
Software is a set of computer programs and associated documentation and data. This is in contrast to hardware, from which the system is built and which actually performs the work. At the lowest programming level, executable code consists of machine language instructions supported by an individual processor—typically a central processing unit (CPU) or a graphics processing unit (GPU). Machine language consists of groups of binary values signifying processor instructions that change the state of the computer from its preceding state. For example, an instruction may change the value stored in a particular storage location in the computer—an effect that is not directly observable to the user. An instruction may also invoke one of many input or output operations, for example displaying some text on a computer screen; causing state changes which should be visible to the user. The processor executes the instructions in the order they are provided, unless it is instructed ...
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SNPs
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with incre ...
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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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Network Of Excellence
The Framework Programmes for Research and Technological Development, also called Framework Programmes or abbreviated FP1 to FP9, are funding programmes created by the European Union/European Commission to support and foster research in the European Research Area (ERA). Starting in 2014, the funding programmes were named Horizon. The funding programmes began in 1984 and continue to the present day. The most recent programme, Horizon Europe, has a budget of 95.5 billion Euros to be distributed over 7 years. The specific objectives and actions vary between funding periods. In FP6 and FP7, focus was on technological research. In Horizon 2020, the focus was on innovation, delivering economic growth faster, and delivering solutions to end users that are often governmental agencies. Background Conducting European research policies and implementing European research programmes is an obligation under the Amsterdam Treaty, which includes a chapter on research and technological development. ...
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Sixth Framework Programme
The Framework Programmes for Research and Technological Development, also called Framework Programmes or abbreviated FP1 to FP9, are funding programmes created by the European Union/European Commission to support and foster research in the European Research Area (ERA). Starting in 2014, the funding programmes were named Horizon. The funding programmes began in 1984 and continue to the present day. The most recent programme, Horizon Europe, has a budget of 95.5 billion Euros to be distributed over 7 years. The specific objectives and actions vary between funding periods. In FP6 and FP7, focus was on technological research. In Horizon 2020, the focus was on innovation, delivering economic growth faster, and delivering solutions to end users that are often governmental agencies. Background Conducting European research policies and implementing European research programmes is an obligation under the Amsterdam Treaty, which includes a chapter on research and technological development. ...
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University Of Leicester
, mottoeng = So that they may have life , established = , type = public research university , endowment = £20.0 million , budget = £326 million , chancellor = David Willetts , vice_chancellor = Nishan Canagarajah , head_label = Visitor , head = The King , academic_staff = 1,705 (2018/19) , administrative_staff = 2,205 (2018/19) , students = () , undergrad = () , postgrad = () , city = Leicester , country = England, UK , coordinates = , campus = Urban parkland , colours = , website = , logo = UniOfLeicesterLogo.svg , logo_size = 250px , affiliations = ACUAMBA EMUA EUA Sutton 30 M5 UniversitiesUniversities UK The University of Leicester ( ) is a public research university based in Leicester, England. The main campus is south of the city centre, adjacent to Victoria Park. The university's predecessor, University College, Leicester, gained university status in 1957. The university had an income of £323.1 million in 2019/20, of which £5 ...
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DbSNP
The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). Although the name of the database implies a collection of one class of polymorphisms only (i.e., single nucleotide polymorphisms (SNPs)), it in fact contains a range of molecular variation: (1) SNPs, (2) short deletion and insertion polymorphisms (indels/DIPs), (3) microsatellite markers or short tandem repeats (STRs), (4) multinucleotide polymorphisms (MNPs), (5) heterozygous sequences, and (6) named variants. The dbSNP accepts apparently neutral polymorphisms, polymorphisms corresponding to known phenotypes, and regions of no variation. It was created in September 1998 to supplement GenBank, NCBI’s collection of publicly available nucleic acid and protein sequences. In 2017, NCBI stopped ...
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