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GeneReviews
GENEREVIEWS is an online database containing standardized peer-reviewed articles that describe specific heritable diseases . It was established in 1997 as GeneClinics by Roberta A Pagon (University of Washington ) with funding from the National Institutes of Health
National Institutes of Health
. Its focus is primarily on single-gene disorders, providing current disorder-specific information on diagnosis, management, and genetic counseling. Links to disease-specific and/or general consumer resources are included in each article when available. The database is published on the National Center for Biotechnology Information Bookshelf site. Articles are updated every two or three years or as needed, and revised whenever significant changes in clinically relevant information occur. Articles are searchable by author, title, gene, and name of disease or protein, and are available free of charge
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Digital Object Identifier
In computing, a DIGITAL OBJECT IDENTIFIER or DOI is a persistent identifier or handle used to uniquely identify objects, standardized by the International Organization for Standardization
International Organization for Standardization
( ISO
ISO
). An implementation of the Handle System , DOIs are in wide use mainly to identify academic, professional, and government information, such as journal articles, research reports and data sets, and official publications though they also have been used to identify other types of information resources, such as commercial videos. A DOI aims to be "resolvable", usually to some form of access to the information object to which the DOI refers. This is achieved by binding the DOI to metadata about the object, such as a URL , indicating where the object can be found
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Genetics
GENETICS is the study of genes , genetic variation , and heredity in living organisms . It is generally considered a field of biology , but intersects frequently with many other life sciences and is strongly linked with the study of information systems . The father of genetics is Gregor Mendel
Gregor Mendel
, a late 19th-century scientist and Augustinian friar . Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring. 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 beyond inheritance to studying the function and behavior of genes
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Special
SPECIAL or SPECIALS may refer to: CONTENTS * 1 Music * 2 Film and television * 3 Other uses * 4 See also MUSIC * Special (album) , a 1992 album by Vesta Williams * "Special" (Garbage song) , 1998 * "Special" (Mew song) , 2005 * "Special" (Stephen Lynch song) , 2000 * The Specials
The Specials
, a British band * "Special", a song by Violent Femmes on The Blind Leading the Naked * "Special", a song on
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PubMed Identifier
PUBMED is a free search engine accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. The United States National Library of Medicine (NLM) at the National Institutes of Health
National Institutes of Health
maintains the database as part of the Entrez
Entrez
system of information retrieval . From 1971 to 1997, MEDLINE online access to the MEDLARS Online computerized database primarily had been through institutional facilities, such as university libraries . PubMed, first released in January 1996, ushered in the era of private, free, home- and office-based MEDLINE searching. The PubMed
PubMed
system was offered free to the public in June 1997, when MEDLINE searches via the Web were demonstrated, in a ceremony, by Vice President Al Gore
Al Gore

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National Center For Biotechnology Information
The NATIONAL CENTER FOR BIOTECHNOLOGY INFORMATION (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health
National Institutes of Health
(NIH). The NCBI is located in Bethesda, Maryland and was founded in 1988 through legislation sponsored by Senator Claude Pepper
Claude Pepper
. The NCBI houses a series of databases relevant to biotechnology and biomedicine and is an important resource for bioinformatics tools and services. Major databases include GenBank
GenBank
for DNA
DNA
sequences and PubMed , a bibliographic database for the biomedical literature. Other databases include the NCBI Epigenomics database. All these databases are available online through the Entrez
Entrez
search engine
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Heritable Disease
A GENETIC DISORDER is a genetic problem caused by one or more abnormalities in the genome , especially a condition that is present from birth (congenital ). Most genetic disorders are quite rare and affect one person in every several thousands or millions. Genetic disorders may be hereditary , passed down from the parents' genes. In other genetic disorders, defects may be caused by new mutations or changes to the DNA
DNA
. In such cases, the defect will only be passed down if it occurs in the germ line . The same disease , such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and mainly by environmental causes in other people. Whether, when and to what extent a person with the genetic defect or abnormality will actually suffer from the disease is almost always affected by the environmental factors and events in the person's development
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Peer Review
PEER REVIEW is the evaluation of work by one or more people of similar competence to the producers of the work (peers). It constitutes a form of self-regulation by qualified members of a profession within the relevant field . Peer review
Peer review
methods are employed to maintain standards of quality, improve performance, and provide credibility. In academia , scholarly peer review is often used to determine an academic paper 's suitability for publication . Peer review can be categorized by the type of activity and by the field or profession in which the activity occurs, e.g., medical peer review . CONTENTS * 1 Professional * 2 Scholarly * 3 Government policy * 4 Medical * 5 See also * 6 References PROFESSIONALProfessional peer review focuses on the performance of professionals, with a view to improving quality, upholding standards, or providing certification
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University Of Washington
The UNIVERSITY OF WASHINGTON (commonly referred to as UW, simply WASHINGTON, or informally “U-DUB” ) is a large, public flagship research university in Seattle
Seattle
, Washington , established in 1861. Washington is one of the oldest universities on the West Coast. It has three campuses, with the oldest and largest being located in the University District of Seattle, and two others in Tacoma and Bothell . The university is among the most reputable, and most competitive, within the United States. Overall, Washington encompasses 500 buildings and over 20 million gross square footage of space, including over 26 university libraries, the University of Washington Plaza , UW Tower, art centers, museums, lecture halls, laboratories, and conference centers
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National Institutes Of Health
The NATIONAL INSTITUTES OF HEALTH (NIH) is the primary agency of the United States government
United States government
responsible for biomedical and public health research, founded in the late 1870s. It is part of the United States Department of Health and Human Services
Department of Health and Human Services
with facilities mainly located in Bethesda, Maryland
Bethesda, Maryland
. It conducts its own scientific research through its Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program
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GeneReviews
GENEREVIEWS is an online database containing standardized peer-reviewed articles that describe specific heritable diseases . It was established in 1997 as GeneClinics by Roberta A Pagon (University of Washington ) with funding from the National Institutes of Health
National Institutes of Health
. Its focus is primarily on single-gene disorders, providing current disorder-specific information on diagnosis, management, and genetic counseling. Links to disease-specific and/or general consumer resources are included in each article when available. The database is published on the National Center for Biotechnology Information Bookshelf site. Articles are updated every two or three years or as needed, and revised whenever significant changes in clinically relevant information occur. Articles are searchable by author, title, gene, and name of disease or protein, and are available free of charge
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