Human variation databases.
Summary of "Human variation databases."
More than 100 000 human genetic variations have been described in various genes that are associated with a wide variety of diseases. Such data provides invaluable information for both clinical medicine and basic science. A number of locus-specific databases have been developed to exploit this huge amount of data. However, the scope, format and content of these databases differ strongly and as no standard for variation databases has yet been adopted, the way data is presented varies enormously. This review aims to give an overview of current resources for human variation data in public and commercial resources.
Affiliation
Pharma Research and Early Development, pRED Informatics, Roche Diagnostics GmbH, Penzberg.
Journal Details
This article was published in the following journal.
Name: Database : the journal of biological databases and curation
ISSN: 1758-0463
Pages: baq015
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20639550
- DOI: http://dx.doi.org/10.1093/database/baq015
Medical and Biotech [MESH] Definitions
Databases, Genetic
Databases devoted to knowledge about specific genes and gene products.
Databases, Nucleic Acid
Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.
Databases, Bibliographic
Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from DATABASES, FACTUAL which is used for collections of data and facts apart from bibliographic references to them.
Databases, Protein
Databases containing information about PROTEINS such as AMINO ACID SEQUENCE; PROTEIN CONFORMATION; and other properties.
Small-area Analysis
A method of analyzing the variation in utilization of health care in small geographic or demographic areas. It often studies, for example, the usage rates for a given service or procedure in several small areas, documenting the variation among the areas. By comparing high- and low-use areas, the analysis attempts to determine whether there is a pattern to such use and to identify variables that are associated with and contribute to the variation.
PubMed Articles
Abstract Identification of the genetic basis of variable treatment response, prognosis and survival in cancer patients (i.e. personalized medicine) is an important aim in current medicine. Millions of...
More than 1000 web-based locus-specific variation databases (LSDBs) are listed on the website of the Human Genetic Variation Society (HGVS). These individual efforts which often relate phenotype to ge...
Genetic variation databases have become indispensable in many areas of health care. In addition, more and more experts are depositing published and unpublished disease-causing variants of particular g...
T cell epitopes derived from polymorphic proteins or from proteins encoded by alternative reading frames (ARFs) play an important role in (tumor) immunology. Identification of these peptides is succes...
Understanding human genetic variation in the era of high-throughput sequencing.
The EMBO/EMBL symposium 'Human Variation: Cause and Consequence' highlighted advances in understanding the molecular basis of human genetic variation and its myriad implications for biology, human ori...
Clinical Trials
Genetic Basis for Variation in the Renal Elimination of Metformin
The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters. We will study individuals with particular genotypes of t...
GARDASIL™ Vaccine Impact in Population Study
This study will assess the impact of GARDASIL™ in the general female population by utilizing nationwide registry databases in the participating Nordic countries.
Physicians' Understanding of Human Genetic Variation
This study will develop a survey instrument to measure primary care physicians' knowledge of the variation in human genetics, their beliefs about biologic and genetic differences according...
Study of the Natural Variation in Strokevolume
We would like to investigate the natural variation in the strokevolume of the heart. At the same time we would like to find out the minimal number of heart cycles necessary to discover a 1...
Racial Variation in ACE--Genetic and Physiologic Bases
To determine whether differences in the activity of the renin-angiotensin and bradykinin systems are involved in the pathogenesis of blood pressure variation in African Americans.
