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Found 19 result(s)

Infevers

The registry of Auto-Inflammatory Disease mutations

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The ISSAID website gathers resources related to the systemic autoinflammatory diseases in order to facilitate contacts between interested physicians and researchers. The website provides support to share and rapidly disseminate information, thoughts, feelings and experiences to improve the quality of life of patients and families affected by systemic autoinflammatory diseases, and promote advances in the search for causes and cures.

Human Genetic Variation Repository

HGVD

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The Human Genetic Variation Database (HGVD) aims to provide a central resource to archive and display Japanese genetic variation and association between the variation and transcription level of genes. The database currently contains genetic variations determined by exome sequencing of 1,208 individuals and genotyping data of common variations obtained from a cohort of 3,248 individuals.

AceView

AceView genes

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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.

Clinical Genomic Database

CGD

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Clinical Genomic Database (CGD) is a manually curated database of conditions with known genetic causes, focusing on medically significant genetic data with available interventions.

Biogrid Australia

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BioGrid Australia Limited operates a federated data sharing platform for collaborative translational health and medical research providing a secure infrastructure that advances health research by linking privacy-protected and ethically approved data among a wide network of health collaborators. BioGrid links real-time de-identified health data across institutions, jurisdictions and diseases to assist researchers and clinicians improve their research and clinical outcomes. The web-based infrastructure provides ethical access while protecting both privacy and intellectual property.

OrtholugeDB

The Ortholog Database

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OrtholugeDB contains Ortholuge-based orthology predictions for completely sequenced bacterial and archaeal genomes. It is also a resource for reciprocal best BLAST-based ortholog predictions, in-paralog predictions (recently duplicated genes) and ortholog groups in Bacteria and Archaea. The Ortholuge method improves the specificity of high-throughput orthology prediction.

Genome Warehouse

GWH

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The Genome Warehouse (GWH) is a public repository housing genome-scale data for a wide range of species and delivering a series of web services for genome data submission, storage, release and sharing.

NCBI dbVar

Database of genomic structural VARiation

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The dbVar is a database of genomic structural variation containing data from multiple gene studies. Users can browse data containing the number of variant cells from each study, and filter studies by organism, study type, method and genomic variant. Organisms include human, mouse, cattle and several additional animals. ***NCBI will phase out support for non-human organism data in dbSNP and dbVar beginning on September 1, 2017 ***

ExAC Browser

Exome Aggregation Consortium Browser

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<<<!!!<<< The ExAC browser is no longer available ExAC data is available in the gnomAD browser https://gnomad.broadinstitute.org/ or for download https://gnomad.broadinstitute.org/downloads#exac-variants. >>>!!!>>>

Genome-Scale Metabolic Network DataBase

GSMNDB

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<<<!!!<<< 2019-12-23: the repository is offline >>>!!!>>> Introduction of genome-scale metabolic network: The completion of genome sequencing and subsequent functional annotation for a great number of species enables the reconstruction of genome-scale metabolic networks. These networks, together with in silico network analysis methods such as the constraint based methods (CBM) and graph theory methods, can provide us systems level understanding of cellular metabolism. Further more, they can be applied to many predictions of real biological application such as: gene essentiality analysis, drug target discovery and metabolic engineering

LabKey Open Research Portal

formerly: Zika Open-Research Portal

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In response to emerging pathogens, LabKey launched the Open Research Portal in 2016 to help facilitate collaborative research. It was initially created as a platform for investigators to make Zika research data, commentary and results publicly available in real-time. It now includes other viruses like SARS-CoV-2 where there is a compelling need for real-time data sharing. Projects are freely available to researchers. If you are interested in sharing real-time data through the portal, please contact LabKey to get started.

arrayMap

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arrayMap is a repository of cancer genome profiling data. Original) from primary repositories (e.g. NCBI GEO, EBI ArrayExpress, TCGA) is re-processed and annotated for metadata. Unique visualization of the processed data allows critical evaluation of data quality and genome information. Structured metadata provides easy access to summary statistics, with a focus on copy number aberrations in cancer entities.

DisGeNET

A knowledge base for disease genomics

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DisGeNET is a discovery platform containing one of the largest publicly available collections of genes and variants associated to human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. DisGeNET data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype–phenotype relationships.

SISSA Open Data

Scuola Internazionale Superiore di Studi Avanzati Open Data

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SISSA Open Data is the Sissa repository for the research data managment. It is an institutional repository that captures, stores, preserves, and redistributes the data of the SISSA scientific community in digital form. SISSA Open Data is managed by the SISSA Library as a service to the SISSA scientific community.

The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database

The Lafora Database

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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.

UCLanData

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Repository of research data sets created under the auspices of the University of Central Lancashire

The Global Proteome Machine

GPM

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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.

QTL Archive

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This site provides access to raw data from various QTL (quantitative trait loci) studies using rodent inbred line crosses. Data are available in the .csv format used by R/qtl and pseudomarker programs. In some cases analysis scripts and/or results are posted to accompany the data.

Ensembl

e!

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The Ensembl project produces genome databases for vertebrates and other eukaryotic species. Ensembl is a joint project between the European Bioinformatics Institute (EBI) and the Wellcome Trust Sanger Institute (WTSI) to develop a software system that produces and maintains automatic annotation on selected genomes.The Ensembl project was started in 1999, some years before the draft human genome was completed. Even at that early stage it was clear that manual annotation of 3 billion base pairs of sequence would not be able to offer researchers timely access to the latest data. The goal of Ensembl was therefore to automatically annotate the genome, integrate this annotation with other available biological data and make all this publicly available via the web. Since the website's launch in July 2000, many more genomes have been added to Ensembl and the range of available data has also expanded to include comparative genomics, variation and regulatory data. Ensembl is a joint project between European Bioinformatics Institute (EBI), an outstation of the European Molecular Biology Laboratory (EMBL), and the Wellcome Trust Sanger Institute (WTSI). Both institutes are located on the Wellcome Trust Genome Campus in Hinxton, south of the city of Cambridge, United Kingdom.