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- WayStation will provide a central point with a consistent interface and format for the submission and collection of human genetic variation data.
- WayStation will direct submitted data to a Review Board for approval.
- When variations are approved, WayStation will release them to the appropriate Locus Specific Databases, the central, dbSNP & other databases.
- WayStation has developed a detailed Genome Variation Reports (GVR) definition in cooperation with members of the Human Genome Variation Society, Wiley-Liss Inc. and United States National Library of Medicine (NCBI). In general, single, novel, unpublished variations fulfilling minimum data content criteria will be considered for GVR status.
- The goal is that novel variations will be published electronically as GVRs in Human Mutation, A Wiley-Liss, Inc., publication.
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 Description
HGMD constitutes a comprehensive core collection of data on germ-line mutations underlying or associated with human inherited disease. Based in the Institute of Medical Genetics and managed by Peter Stenson and his staff of four, this unique database currently contains information on the nature, location and sequence context of some 60,000 different mutational lesions in more than 2230 human genes. It also provides data on gene names and symbols, chromosomal locations and original literature references. Integration with phenotypic, structural and mapping information has also been made possible by the provision of links to a variety of web-based resources. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility to researchers, physicians, clinicians and genetic counsellors. It was therefore made publicly available in April 1996 at http://www.hgmd.org. The database can be used to search for newly identified gene lesions to determine whether or not they are novel. It can also be searched on a gene-wise basis to obtain an overview of the known mutational spectrum for a given gene. Additionally, it can be searched for other examples of a specific type of mutation in a specific location in order to garner evidence for the pathological authenticity of a given lesion. Although more than 90% of HGMD data are in the public domain, the newly signed agreement allows BIOBASE a 12 month period of exclusive access to new information added to HGMD.
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 Welcome to the Golden Helix Server, a web site devoted to Mutation Databases and related applications, which can facilitate population-wide genetic testing.
Golden Helix's site hosts a number of national mutation databases.
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 Description
The goal of the International HapMap Project is to develop a
haplotype map of the human genome, the HapMap, which will describe the
common patterns of human DNA sequence variation. The HapMap is expected
to be a key resource for researchers to use to find genes affecting
health, disease, and responses to drugs and environmental factors. The
information produced by the Project will be made freely available.
The Project is a collaboration among scientists in Japan, the U.K., Canada, China, Nigeria, and the U.S.
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 Description
A grand challenge in the post-genomic era is a complete computer representation of the cell, the organism, and the biosphere, which will enable computational prediction of higher-level complexity of cellular processes and organism behaviors from genomic and molecular information. Towards this end we have been developing a bioinformatics resource named KEGG as part of the research projects of the Kanehisa Laboratories in the Bioinformatics Center of Kyoto University and the Human Genome Center of the University of Tokyo.
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DescriptionUCSC Genome Bioinformatics site contains the reference sequence and working draft
assemblies for a large collection of genomes.
The Genome Browser zooms and scrolls over chromosomes,
showing the work of annotators worldwide. The Gene Sorter
shows expression, homology and other information on groups
of genes that can be related in many ways.
Blat quickly maps your sequence to the genome. The Table
Browser provides convenient access to the underlying
database. VisiGene lets you browse through a large
collection of in situ mouse and frog images to
examine expression patterns. Genome Graphs allows you to
upload and display genome-wide data sets.
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Description
PubMed Central (PMC), is a free digital archive of biomedical and life sciences journal literature at the U.S. National Institutes of Health (NIH), developed and managed by NIH's National Center for Biotechnology Information (NCBI) in the National Library of Medicine (NLM).
With PubMed Central, NLM is taking the lead in preserving and maintaining unrestricted access to the electronic literature, just as it has done for decades with the printed biomedical literature.
PubMed Central aims to fill the role of a world class library in the digital age. It is not a journal publisher.
NLM believes that giving all users free and unrestricted access to the material in PubMed Central is the best way to ensure the durability and utility of the archive as technology changes over time.
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Description
A network of concurring genes and proteins extends through the
scientific literature touching on phenotypes, pathologies and gene
function.
iHOP provides this network as a natural way of accessing
millions of PubMed abstracts.
By using genes and proteins as hyperlinks
between sentences and abstracts, the information in PubMed can be
converted into one navigable resource, bringing all advantages of the
internet to scientific literature research.
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Description
An online repository of information about the frequency of different mutations leading to inherited disorders in various populations around the globe.
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Description
The web site of the European Bioinformatics Institute, incorporating queries of comprehensive sequence data, metadata, and literature
URL http://www.ebi.ac.uk
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Description
A powerful web interface for querying draft and finalised sequence data for all major genome projects
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Description
A division of the Stanford University Libraries, hosting the largest repository of high impact, peer-reviewed content, performing full-text searches of complete article texts, and providing access to many articles free-of-charge
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