Curator Dashboard

Clearinghouse and exchange portal for gene variant (mutation) data produced by diagnostics laboratories, offering users a portal through which to announce, discover and acquire a comprehensive listing of observed neutral and disease-causing gene variants in patients and unaffected individuals. Cafe Variome is not a ''''database'''' for the hosting/display/release of data, but a shop window for finding data. As such, it holds only core info for each record, and uses this merely to enable holistic searching across resources. Diagnostics laboratories routinely assess DNA samples from patients with various inherited disorders, and so produce a great wealth of data on the genetic basis of disease. Unfortunately, those data are not usually shared with others. To address this gross deficiency, a novel system has been developed that aims to facilitate the automated transfer of diagnostic laboratory data to the wider community, via an internet based Cafe for routinely exchanging genetic variation data. The flow of research data concerning the genetic basis of health and disease is critical to understanding and developing treatments for a range of genetic diseases. Overall, the project aims to lower the barriers and provide incentives for a willing community to share data, and thereby facilitate the broader exploitation of diagnostic laboratory data. Cafe Variome aims to address the above data flow problems by: # Minimizing the effort required to publish variant data # Ensuring attribution for data creators working in diagnostic laboratories Key elements of the project strategy are: * Data publication will be automated by endowing standard analysis tools used by laboratories with an online data submission function. Submissions will be received by a central Internet depot, which will serve as a place where published datasets are advertised, and subsequently discovered by diverse 3rd parties. * Each dataset will be unambiguously linked with the data submitter''''s identity, and systems devised to facilitate citation of published variant datasets so they can be cited in the literature. Data creators will thus be credited for their contributions. Data submitters can use Cafe Variome to simply announce or publicize their data to the world. To enable this, only core, non-identifiable data is submitted to the central repository, enabling users to search and discover records of interest in the source repository. The data are not automatically handed on to the user (unless intended by the submitters). Hence, the concept is used to deal with the challenge of maximally sharing data whilst fully respecting ethico-legal considerations.

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• SciCrunch
• 15 years ago - by Anonymous

Create knockout alleles in protein coding genes in the zebrafish genome, using a combination of whole exome enrichment and Illumina next generation sequencing, with the aim to cover them all. Each allele created is analyzed for morphological differences and published on the ZMP site. Transcript counting is performed on alleles with a morphological phenotype. Alleles generated are archived and can be requested from this site through the Zebrafish International Resource Center (ZIRC). You may register to receive updates on genes of interest, or browse a complete list, or search by Ensembl ID, gene name or human and mouse orthologue.

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• SciCrunch
• 15 years ago - by Anonymous

Contains standardized phenotyping protocols essential for the characterization of mouse phenotypes. IMPReSS holds definitions of the phenotyping Pipelines and mandatory and optional Procedures and Parameters carried out and data collected by international mouse clinics following the protocols defined. This allows data to be comparable and shareable and ontological annotations permit interspecies comparison which may help in the identification of phenotypic mouse-models of human diseases. The IMPC (International Mouse Phenotyping Consortium) core pipeline describes the phenotype pipeline that has been agreed by the research institutions. IMPReSS has a SOAP web service machine interface. The WSDL can be accessed here: http://www.mousephenotype.org/impress/soap/server?wsdl

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• SciCrunch
• 15 years ago - by Anonymous

Ontology that describes the different types of associations between a gene and a disease. It was developed to integrate information from different databases that contain gene-disease associations such as UniProt, CTD, Orphanet, the GWAS Catalog, GAD, MGD, RGD, and LHGDN.

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• SciCrunch
• 14 years ago - by Anonymous

Center that produces knockout mice and carries out high-throughput phenotyping of each line in order to determine function of every gene in mouse genome. These mice will be preserved in repositories and made available to scientific community representing valuable resource for basic scientific research as well as generating new models for human diseases.

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• SciCrunch
• 15 years ago - by Anonymous

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on March 31,2026. Phenomizer offers three different approaches to find the appropriate term for a phenotypic abnormality, indicated by the three tabs on the left hand side: Feature, Disease and Ontology. The Phenomizer is intended to be used by qualified and licensed physicians in order to provide assistance in reaching the correct diagnosis in patients with hereditary diseases and for use as a teaching aid. The Phenomizer does not make diagnoses. Rather, it produces a ranked list of possibilities that can be used by physicians as a part of the diagnostic workup. The Phenomizer does not contain information about all possible diagnoses or even all possible hereditary diseases. The Phenomizer should not be used to make medical decisions without the advice of a physician.

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• SciCrunch
• 14 years ago - by Anonymous

The PhenExplorer allows you to browse the Human Phenotype Ontology (HPO) in different ways, using the tabs ''''by features'''', ''''by disease'''', ''''by ontology'''' or ''''by genes''''. Clicking on a particular phenotypic feature (HPO-term) you can get a list of disease entries that are linked to it (i.e. diseases that are annotated with this HPO-term). You can also visualize this term in the context of the ontological structure. Finally, a lists of genes can be displayed, that are known to cause (when mutated) the linked diseases mentioned above. For each disease you can get the list of linked HPO-terms and genes. You can also search for specific genes and explore to which HPO-terms and diseases they are linked.

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• SciCrunch
• 15 years ago - by Anonymous

Blog that provides an on-line forum where the members of the MacArthur Foundation Research Network on Law and Neuroscience can share their ideas and interact with not only other researchers but also with the interested public more generally. One of the main goals of the blog is to provide a resource with information about cutting edge research at the cross-roads of neuroscience, law, and philosophy.

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• SciCrunch
• 15 years ago - by Anonymous

Free access to materials for students, educators, and researchers in cognitive psychology and cognitive neuroscience. Currently there are about a dozen demonstrations and more than 30 videos that were produced over the last two years. The basic philosophy of goCognitive rests on the assumption that easy and free access to high-quality content will improve the learning experience of students and will enable more students to enjoy the field of cognitive psychology and cognitive neuroscience. There are a few parts of goCognitive that are only available to registered users who have provided their email address, but all of the online demonstrations and videos are accessible to the everyone. Both new demonstrations and new video interviews will continually be added to the site. Manuals for each of the demonstration are being created and available as pdf files for download. Most of the demonstrations are pretty straightforward - but in some cases, especially if you would like to collect data - it might be a good idea to look over the manual. There are different ways in which you can get involved and contribute to the site. Your involvement can range from sending us feedback about the demonstrations and videos, suggestions for new materials, or the simple submission of corrections, to the creation or publication of demonstrations and videos that meet our criteria. Down the road we will make the submission process easier, but for now please contact swerner (at) uidaho dot edu for more information. NSF student grant Undergraduate students can apply through goCognitive for an $1,100 grant to co-produce a new video interview with a leading researcher in the field of cognitive neuroscience. The funding has been provided by the National Science Foundation.

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• SciCrunch
• 15 years ago - by Anonymous

Collection of human reference epigenomes and results of their integrative and comparative analyses. Successive releases of the Atlas will provide progressively more detailed insights into locus-specific epigenomic states, including histone marks and DNA methylation marks across specific tissues and cell types, developmental stages, physiological conditions, genotypes, and disease states. The Human Epigenome Atlas is produced by the NIH Epigenomics Roadmap Consortium.

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• SciCrunch
• 15 years ago - by Anonymous

A C / C++ command line toolbox for structural variation (SV) detection that reports mobile element insertions (MEI). It takes advantage of both read-pair and split-read algorithms and is extremely fast and memory-efficient. Powered by the Bamtools API, it can call SV events on multiple BAM files (a population) simutaneously to increase the sensitivity on low-coverage dataset.

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• SciCrunch
• 12 years ago - by Anonymous

THIS RESOURCE IS NO LONGER IN SERVICE, documented on January 19, 2022.

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• SciCrunch
• 15 years ago - by Anonymous

Mouse models for the study of human and animal disease for Australian and international researchers. It has reduced the cost to researchers of accessing mouse models of disease, and provides equipment and expertise to undertake characterization and further research of these models. The APN brought together mouse production, strain storage and pathology capabilities, later extending the core services of the network, and include new services (RNAi and genomics services). Twelve Australian facilities and institutions currently constitute the APN. The APN partners contribute their expertise and infrastructure for the production of mouse models, as well as providing cryopreservation and pathology services. * Walter and Eliza Hall Institute of Medical Research * Monash University * Queensland Institute of Medical Research * Animal Resources Centre * Institute of Medical and Veterinary Science * University of Melbourne * Institute of Molecular Bioscience * Menzies Research Institute * Peter MacCallum Cancer Centre * Australian National University * Western Australian Institute of Medical Research * Centenary Institute In addition, the APN is working with the Atlas of Living Australia to develop a framework for Australia''''s e-science infrastructure to improve the capture, annotation and dissemination of research data. The APN''''s core expertise and infrastructure is also extended by key national and international partnerships. These include the Garvan Institute, the National Institutes of Health (United States), the Wellcome Trust (United Kingdom), and the University of Manitoba (Canada). Services * ES Cell to Mouse: Create a mouse model from embryonic stem cells * RNAi: Screen full genomes to identify novel gene targets * ENU Mutagenesis - Produce chemically-induced mouse models * Pathology - Investigate mouse models using clinical and histopathology * Genomics - Further mouse mutant identification via new discovery pipeline * NHMRC Australian PhenomeBank - a non-profit repository of mouse strains used in Medical Research.

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• SciCrunch
• 15 years ago - by Anonymous

The NHMRC Australian PhenomeBank (APB) is a non-profit repository of mouse strains used in Medical Research. The database allows you to search for murine strains, housed or archived in Australia, carrying mutations in particular genes, strains with transgenic alterations and for mice with particular phenotypes. 1876 publicly available strains, 922 genes, 439 transgenes The APB has two roles: Provide and maintain a central database of genetically modified mice held in Australia either live or as cryopreserved material; Establish and maintain a mouse strain archive. Strains are archived as cryopreserved sperm or embryos.

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• SciCrunch
• 15 years ago - by Anonymous

The Journal Lab is a service that aims to improve dialog about published science allowing the community of professional scientists to openly and anonymously discuss peer-reviewed research and share one''s insights. Users can leave their most insightful comments, risk free. Begin by entering a few terms that you regularly search on PubMed. Then sign up to save your feeds and start sharing your insights. You can use them to discover and discuss the latest research. We are working hard to help top-tier scientists: * Read papers more efficiently. * Share opinions about those papers. * Benefit from the aggregated knowledge of experts in their field. We''re ready for science to change. Retraction rates are on the rise, peer review is becoming increasingly political, negative data is ignored, and reproducibility has become optional, not the standard. It''s time to close the gap between what science is and what it is supposed to be. Let''s put the impact back in impact factor. Solid science does not equal high impact publication. High impact publication does not equal solid science. Sad but true. Together, we can change that. Help us build a world where science is critiqued for its integrity, not its splash.

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• SciCrunch
• 15 years ago - by Anonymous

Public medical school in the northwest United States, located in Seattle and affiliated with the University of Washington.

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• SciCrunch
• 15 years ago - submitted by Davis

An Antibody supplier

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• SciCrunch
• 14 years ago - by Anonymous

A unique resource and comprehensive imaging facility combining the latest state-of-the-art digital medical imaging technologies for the characterization of mouse functional genomics. The goals of the Mouse Imaging Centre are: * To provide a variety of medical imaging technologies adapted to studying genetically modified mice. These technologies include magnetic resonance (MR) imaging, micro computed tomography (micro-CT), ultrasound biomicroscopy (UBM), and optical projection tomography (OPT). * To screen large numbers of mice for models of human diseases. * To image an individual mouse over time to observe development, disease progression and responses to experimental treatment. * To develop an exciting team of investigators with expertise in imaging techniques, computer science, engineering, imaging processing, developmental biology and mouse pathology. * To work by collaboration with researchers throughout the world. When we look for human diseases in the human population, we make extensive use of medical imaging. Therefore, it makes sense to have available the same imaging capabilities as we investigate mice for models of human disease. The Mouse Imaging Centre (MICe) has developed high field magnetic resonance imaging microscopy, ultrasound biomicroscopy, micro computed tomography, and optical techniques. With these imaging tools, MICe is screening randomly mutagenized mice to look for phenotypes that represent human diseases and is taking established human disease models in mice and using imaging to follow the progression of disease and response to treatment over time. It is clear that imaging has a major contribution to make to phenotyping genetic variants and to characterizing mouse models. MICe is staffed by an exciting new team of about 30 investigators with expertise in imaging techniques, computer science, engineering, imaging processing, developmental biology and mouse pathology. The Mouse Imaging Centre (MICe) is not a fee-for-service facility but works through collaborations. Services include: * Projects involving MicroCT are available as a fee for service. * We will eventually move to the same model above with MRI. * Ultrasound Biomicroscopy is used for cardiac, embryo and cancer studies and is available as fee for service at $100 per study or in some cases on a collaborative basis. * Optical Projection Tomography has only limited availability on a collaborative basis. Mouse Atlas As our images are inherently three-dimensional, we will be able to make quantitative measures of size and volume. With this in mind, we are developing a mouse atlas showing the normal deviation of organ sizes. This atlas is an important resource for biologists as it has the potential to eliminate the need to sacrifice as many controls when making comparisons with mutants. Mouse Atlas Examples: * Variational Mouse Brain Atlas * Cerebral Vascular Atlas of the CBA Mouse * Neuroanatomy Atlas of the C57Bl/6j Mouse * Vascular Atlas of the Developing Mouse Embryo * Micro-CT E15.5 Mouse Embryo Atlas

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• SciCrunch
• 15 years ago - by Anonymous

Central repository for the physical archive and distribution of cryopreserved ES cells, spermatozoa, ova, embryos, and non-germ cell tissue DNA generated by Canada''''s mouse genome effort. The CMMR acts in coordination with other repositories worldwide and is establishing a nation-wide network of repository nodes to house sub-sets of the resources generated across Canada. The CMMR is the repository and distribution center for the North American Conditional Mouse Mutagenesis project (NorCOMM). The CMMR also collects and stores somatic tissue from mouse models in a variety of formats (fixed, embedded, and glass-slide mounted) enabling world wide access to specimens from established mouse models. Services include: * Embryo cryopreservation and recovery * Ovary cryopreservation and recovery * Ovary transplant * Sperm cryopreservation and recovery * Strain services, including rederivation by IVF, speed expansion and strain rescue * NorCOMM ES cell withdrawal * Non-NorCOMM ES cell expansion

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• SciCrunch
• 15 years ago - by Anonymous

The Toronto Centre for Phenogenomics (TCP) is an innovative, scientific collaboration between four research hospitals to operate a centralized, state-of-the-art research-enabling mouse facility. We conduct and support genetic research involving generation of mutant mice, physiological phenotyping, behavioural analysis, imaging, pathology and cryopreservation for storage and distribution. This joint project involving Mount Sinai Hospital, The Hospital for Sick Children, University Health Network and St. Michael''s Hospital pools resources and expertise to achieve excellence and economies of scale. The TCP opened for operations in October 2007. The centre functions as a regional, national and international resource for mouse models of human disease. This 120,000 square foot facility is located at 25 Orde Street, Toronto, and occupies four floors two below ground and two above. It houses specialized laboratories for mouse generation and analysis and, when fully occupied, it will contain approximately 36,000 cages (180,000 mice). The world-renowned scientific staff studies mammalian gene function, identifies genetic components of complex human disease, produces new mouse models of human disease, develops and tests new cell-based and gene-based therapies, and develops technologies for genome manipulation and phenotypic analysis. The TCP offers state-of-the-art mouse holding and facility support services to academic stakeholders and strategic private sector partners. It houses the Centre for Modeling Human Disease (CMHD), the Canadian Mouse Mutant Repository (CMMR), and the Mouse Imaging Centre (MICe) to provide an array of pre-clinical research services to clients. TCP Services * Phenotyping * Genetic Mapping * Pathology * Cryopreservation * Imaging * Genetically Engineered Mouse Models * Mouse Holding and Technical Services

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• SciCrunch
• 15 years ago - by Anonymous