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Found 20 result(s)
Androgen Receptor Gene Mutations Database is for all who are interested in mutations of the Androgen Receptor Gene. In light of the difficulty in getting new AR mutations published the curator will now accept new mutations that have not been published, provided that it is from a reputable research or clinical laboratory. The curator also strongly suggests that where possible, particularly in the case of new unique mutations that an attempt be made to at least confirm the pathogenicity of the putatative mutation, by showing that the mutation when transfected into a suitable expression system produces a mutant androgen receptor protein.
The Parkinson disease Mutation Database (PDmutDB) aims at collecting all known mutations in the genes related to Parkinson disease (PD). Mutations are collected from the literature and from presentations at scientific meetings. In addition, mutations can be submitted to PDmutDB at this web site.
The Alzheimer Disease & Frontotemporal Dementia Mutation Database (AD&FTDMDB) aims at collecting all known mutations in the genes related to Alzheimer disease (AD) and fromtotemporal dementias (FTD). Mutations are collected from the literature and from presentations at scientific meetings. In addition, mutations can be submitted to AD&FTDMDB at this web site.
The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.
Indian Genetic Disease Database (IGDD) is an initiative of CSIR Indian Institute of Chemical Biology. It is supported by Council of Scientific and Industrial Research (CSIR) and Department of Biotechnology (DBT) of India. The Indian people represent one-sixth of the world population and consists of a ethnically, geographically, and genetically diverse population. In some communities the ratio of genetic disorder is relatively high due to consanguineous marriage practiced in the community. This database has been created to keep track of mutations in the causal genes for genetic diseases common in India and help the physicians, geneticists, and other professionals retrieve and use the information for the benefit of the public. The database includes scientific information about these genetic diseases and disabilities, but also statistical information about these diseases in today's society. Data is categorized by body part affected and then by title of the disease.
A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.
The CGSC Database of E. coli genetic information includes genotypes and reference information for the strains in the CGSC collection, the names, synonyms, properties, and map position for genes, gene product information, and information on specific mutations and references to primary literature. The public version of the database includes this information and can be queried directly via this CGSC DB WebServer
Oral Cancer Gene Database is an initiative of the Advanced Centre for Treatment, Research and Education in Cancer, Navi Mumbai. The present database, version II, consists of 374 genes. It is developed as a user friendly site that would provide the scientist, information and external links from one place. The database is accessed through a list of all genes, and Keyword Search using gene name or gene symbol, chromosomal location, CGH (in %), and molecular weight. Interaction Network shows the interaction between genes for particular biological processes and molecular functions.
The Global Proteome Machine (GPM) is a protein identification database. This data repository allows users to post and compare results. GPM's data is provided by contributors like The Informatics Factory, University of Michigan, and Pacific Northwestern National Laboratories. The GPM searchable databases are: GPMDB, pSYT, SNAP, MRM, PEPTIDE and HOT.
The HomoloGene database provides a system for the automated detection of homologs among annotated genes of genomes across multiple species. These homologs are fully documented and organized by homology group. HomoloGene processing uses proteins from input organisms to compare and sequence homologs, mapping back to corresponding DNA sequences.
Content type(s)
The Centre for Applied Genomics hosts a variety of databases related to ongoing supported projects. Curation of these databases is performed in-house by TCAG Bioinformatics staff. The Autism Chromosome Rearrangement Database, The Cystic Fibrosis Mutation Database, TThe Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database are included. Large Scale Genomics Research resources include, the Database of Genomic Variants, The Chromosome 7 Annotation Project, The Human Genome Segmental Duplication Database, and the Non-Human Segmental Duplication Database
The Reference Sequence (RefSeq) collection provides a comprehensive, integrated, non-redundant, well-annotated set of sequences, including genomic DNA, transcripts, and proteins. RefSeq sequences form a foundation for medical, functional, and diversity studies. They provide a stable reference for genome annotation, gene identification and characterization, mutation and polymorphism analysis (especially RefSeqGene records), expression studies, and comparative analyses.
Clinical Genomic Database (CGD) is a manually curated database of conditions with known genetic causes, focusing on medically significant genetic data with available interventions.
This site provides users with access to up-to-date information about mutations at the phenylalanine hydroxylase locus. Here you will have access to the content of the database in the form of electronic reports. The database is updated manually off-line by the curators to assure that no erroneous information is appended. The curators now also accept data electronically via the submission form.
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh. Its official home is
The CASRdb site is dedicated to providing information on published mutations and polymorphisms of the calcium-sensing receptor (CASR).
The IMSR is a searchable online database of mouse strains, stocks, and mutant ES cell lines available worldwide, including inbred, mutant, and genetically engineered strains. The goal of the IMSR is to assist the international scientific community in locating and obtaining mouse resources for research. Note that the data content found in the IMSR is as supplied by strain repository holders. For each strain or cell line listed in the IMSR, users can obtain information about: Where that resource is available (Repository Site); What state(s) the resource is available as (e.g. live, cryopreserved embryo or germplasm, ES cells); Links to descriptive information about a strain or ES cell line; Links to mutant alleles carried by a strain or ES cell line; Links for ordering a strain or ES cell line from a Repository; Links for contacting the Repository to send a query
>>>>!!!!<<<< The Cancer Genomics Hub mission is now completed. The Cancer Genomics Hub was established in August 2011 to provide a repository to The Cancer Genome Atlas, the childhood cancer initiative Therapeutically Applicable Research to Generate Effective Treatments and the Cancer Genome Characterization Initiative. CGHub rapidly grew to be the largest database of cancer genomes in the world, storing more than 2.5 petabytes of data and serving downloads of nearly 3 petabytes per month. As the central repository for the foundational genome files, CGHub streamlined team science efforts as data became as easy to obtain as downloading from a hard drive. The convenient access to Big Data, and the collaborations that CGHub made possible, are now essential to cancer research. That work continues at the NCI's Genomic Data Commons. All files previously stored at CGHub can be found there. The Website for the Genomic Data Commons is here: >>>>!!!!<<<< The Cancer Genomics Hub (CGHub) is a secure repository for storing, cataloging, and accessing cancer genome sequences, alignments, and mutation information from the Cancer Genome Atlas (TCGA) consortium and related projects. Access to CGHub Data: All researchers using CGHub must meet the access and use criteria established by the National Institutes of Health (NIH) to ensure the privacy, security, and integrity of participant data. CGHub also hosts some publicly available data, in particular data from the Cancer Cell Line Encyclopedia. All metadata is publicly available and the catalog of metadata and associated BAMs can be explored using the CGHub Data Browser.
As with most biomedical databases, the first step is to identify relevant data from the research community. The Monarch Initiative is focused primarily on phenotype-related resources. We bring in data associated with those phenotypes so that our users can begin to make connections among other biological entities of interest. We import data from a variety of data sources. With many resources integrated into a single database, we can join across the various data sources to produce integrated views. We have started with the big players including ClinVar and OMIM, but are equally interested in boutique databases. You can learn more about the sources of data that populate our system from our data sources page
Mapping, copy number analysis, sequence and gene expression data generated by the High Resolution Analysis of Follicular Lymphoma Genomes project. The data will be available for 24 patients with follicular lymphoma. All data will be made as widely and freely available as possible while safeguarding the privacy of participants, and protecting confidential and proprietary data.The data from this project will be submitted to public genomic data sources. These sources will be listed on this web site as the data becomes available in these external data sources.