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Found 15 result(s)
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The RAMEDIS system is a platform independent, web-based information system for rare metabolic diseases based on filed case reports. It was developed in close cooperation with clinical partners to allow them to collect information on rare metabolic diseases with extensive details, e.g. about occurring symptoms, laboratory findings, therapy and molecular data.
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The Autism Chromosome Rearrangement Database is a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature: databases and unpublished data.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.
AceView provides a curated, comprehensive and non-redundant sequence representation of all public mRNA sequences (mRNAs from GenBank or RefSeq, and single pass cDNA sequences from dbEST and Trace). These experimental cDNA sequences are first co-aligned on the genome then clustered into a minimal number of alternative transcript variants and grouped into genes. Using exhaustively and with high quality standards the available cDNA sequences evidences the beauty and complexity of mammals’ transcriptome, and the relative simplicity of the nematode and plant transcriptomes. Genes are classified according to their inferred coding potential; many presumably non-coding genes are discovered. Genes are named by Entrez Gene names when available, else by AceView gene names, stable from release to release. Alternative features (promoters, introns and exons, polyadenylation signals) and coding potential, including motifs, domains, and homologies are annotated in depth; tissues where expression has been observed are listed in order of representation; diseases, phenotypes, pathways, functions, localization or interactions are annotated by mining selected sources, in particular PubMed, GAD and Entrez Gene, and also by performing manual annotation, especially in the worm. In this way, both the anatomy and physiology of the experimentally cDNA supported human, mouse and nematode genes are thoroughly annotated.
The Cancer Genome Atlas (TCGA) Data Portal provides a platform for researchers to search, download, and analyze data sets generated by TCGA. It contains clinical information, genomic characterization data, and high level sequence analysis of the tumor genomes. The Data Coordinating Center (DCC) is the central provider of TCGA data. The DCC standardizes data formats and validates submitted data.
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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.
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Satellog is a database to identify and dynamically prioritize repeats by using various characteristics, for example, repeat unit, repeat length percentile rank, class, period, total length, genomic coordinates, UniGene polymorphism profile, proximity to or presence within gene regions, such as CDS, UTR, location upstream.
GeneCards is a searchable, integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes. It automatically integrates gene-centric data from ~125 web sources, including genomic, transcriptomic, proteomic, genetic, clinical and functional information.
CalSurv is a comprehensive information on West Nile virus, plague, malaria, Lyme disease, trench fever and other vectorborne diseases in California — where they are, where they’ve been, where they may be headed and what new diseases may be emerging.The CalSurv Web site serves as a portal or a single interface to all surveillance-related Web sites in California.
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The public MorpheusML model repository collects, curates, documents and tests computational models for multi-scale and multicellular biological systems. Model must be encoded in the model description language MorpheusML. Subsections of the repository distinguish published models from contributed non-published and example models. New models are simulated in Morpheus or Artistoo independently from the authors and results are compared to published results. Successful reproduction is documented on the model's webpage. Models in this repository are included into the CI and test pipelines for each release of the model simulator Morpheus to check and guarantee reproducibility of results across future simulator updates. The model’s webpage provides a History-link to all past model versions and edits that are automatically tracked via Git. Each model is registered with a unique and persistent ID of the format M..... The model description page (incl. the biological context and key results of that model), the model’s XML file, the associated paper, and all further files (often simulation result videos) connected with that model can be retrieved via a persistent URL of the format https://identifiers.org/morpheus/M..... - for technical details on the citable ModelID please see https://registry.identifiers.org/registry/morpheus - for the model definition standard MorpheusML please see https://doi.org/10.25504/FAIRsharing.78b6a6 - for the model simulator Morpheus please see https://morpheus.gitlab.io - for the model simulator Artistoo please see https://artistoo.net/converter.html
<<<!!!<<< This site is no longer maintained and is provided for reference only. Some functionality or links may not work. For all enquiries please contact the Ensembl Helpdesk http://www.ensembl.org/Help/Contact >>>!!!>>> PhytoPath is a new bioinformatics resource that integrates genome-scale data from important plant pathogen species with literature-curated information about the phenotypes of host infection. Using the Ensembl Genomes browser, it provides access to complete genome assembly and gene models of priority crop and model-fungal, oomycete and bacterial phytopathogens. PhytoPath also links genes to disease progression using data from the curated PHI-base resource. PhytoPath portal is a joint project bringing together Ensembl Genomes with PHI-base, a community-curated resource describing the role of genes in pathogenic infection. PhytoPath provides access to genomic and phentoypic data from fungal and oomycete plant pathogens, and has enabled a considerable increase in the coverage of phytopathogen genomes in Ensembl Fungi and Ensembl Protists. PhytoPath also provides enhanced searching of the PHI-base resource as well as the fungi and protists in Ensembl Genomes.
Project Tycho is a repository for global health, particularly disease surveillance data. Project Tycho currently includes data for 92 notifiable disease conditions in the US, and up to three dengue-related conditions for 99 countries. Project Tycho has compiled data from reputable sources such as the US Centers for Disease Control, the World Health Organization, and National health agencies for countries around the world. Project Tycho datasets are highly standardized and have rich metadata to improve access, interoperability, and reuse of global health data for research and innovation.
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.
LifeMap Discovery® is a compendium of embryonic development for stem cell research and regenerative medicine, constructed by integrating extensive molecular, cellular, anatomical and medical data curated from scientific literature and high-throughput data sources.
MalaCards is an integrated database of human maladies and their annotations, modeled on the architecture and richness of the popular GeneCards database of human genes. MalaCards mines and merges varied web data sources to generate a computerized web card for each human disease. Each MalaCard contains disease specific prioritized annotative information, as well as links between associated diseases, leveraging the GeneCards relational database, search engine, and GeneDecks set-distillation tool. As proofs of concept of the search/distill/infer pipeline we find expected elucidations, as well as potentially novel ones.