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http://www.cdc.gov/genomics/hugenet/default.htm
Human Genome Epidemiology Network, or HuGENet, is a global collaboration of individuals and organizations committed to the assessment of the impact of human genome variation on population health and how genetic information can be used to improve health and prevent disease. Its goals include: establishing an information exchange that promotes global collaboration in developing peer-reviewed information on the relationship between human genomic variation and health and on the quality of genetic tests for screening and prevention; providing training and technical assistance to researchers and practitioners interested in assessing the role of human genomic variation on population health and how such information can be used in practice; developing an updated and accessible knowledge base on the World Wide Web; and promoting the use of this knowledge base by health care providers, researchers, industry, government, and the public for making decisions involving the use of genetic information for disease prevention and health promotion. HuGENet collaborators come from multiple disciplines such as epidemiology, genetics, clinical medicine, policy, public health, education, and biomedical sciences. Currently, there are 4 HuGENet Coordinating Centers for the implementation of HuGENet activities: CDC''s Office of Public Health Genomics, Atlanta, Georgia; HuGENet UK Coordinating Center, Cambridge, UK; University of Ioannina, Greece; University of Ottawa , Ottawa, Canada. HuGENet includes: HuGE e-Journal Club: The HuGE e-Journal Club is an electronic discussion forum where new human genome epidemiologic (HuGE) findings, published in the scientific literature in the CDC''s Office of Public Health Genomics Weekly Update, will be abstracted, summarized, presented, and discussed via a newly created HuGENet listserv. HuGE Reviews: A HuGE Review identifies human genetic variations at one or more loci, and describes what is known about the frequency of these variants in different populations, identifies diseases that these variants are associated with and summarizes the magnitude of risks and associated risk factors, and evaluates associated genetic tests. Reviews point to gaps in existing epidemiologic and clinical knowledge, thus stimulating further research in these areas. HuGE Fact Sheets: HuGE Fact Sheets summarize information about a particular gene, its variants, and associated diseases. HuGE Case Studies: An on-line presentation designed to sharpen your epidemiological skills and enhance your knowledge on genomic variation and human diseases. Its purpose is to train health professionals in the practical application of human genome epidemiology (HuGE), which translates gene discoveries to disease prevention by integrating population-based data on gene-disease relationships and interventions. Students will acquire conceptual and practical tools for critically evaluating the growing scientific literature in specific disease areas. HUGENet Publications: Articles related to the HuGENet movement written by our HuGENet collaborators. HuGE Navigator: An integrated, searchable knowledge base of genetic associations and human genome epidemiology, including information on population prevalence of genetic variants, gene-disease associations, gene-gene and gene- environment interactions, and evaluation of genetic tests. HuGE Workshops: HuGENet has sponsored meetings and workshops with national and international partners since 2001. Available are detailed summaries, agendas or the ability to download speaker slides. HuGE Book: Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. (The findings and conclusions in this book are those of the author(s) and do not necessarily represent the views of the funding agency.) HuGENet Collaborators: HuGENet is interested in establishing collaborations with individuals and organizations working on population based research involving genetic information. HuGE Funding: Funding opportunities for specific population-based genetic epidemiology research projects are available. Research initiatives whose aims include assessing the prevalence of human genetic variation, the association between genetic variants and human diseases, the measurement of gene-gene or gene-environment interaction, and the evaluation of genetic tests for screening and prevention are compiled to create a posted listing. Additional information and application details can be found by clicking on the respective links.
Proper citation: Human Genome Epidemiology Network (RRID:SCR_013117) Copy
http://www.epilepsygenes.org/page/show/homepage
The Epilepsy Genetic Association Database (epiGAD) is an online repository of data relating to genetic association studies in the field of epilepsy. It summarizes the results of both published and unpublished studies, and is intended as a tool for researchers in the field to keep abreast of recent studies, providing a bird''s eye view of this research area. The goal of epiGAD is to collate all association studies in epilepsy in order to help researchers in this area identify all the available gene-disease associations. Finally, by including unpublished studies, it hopes to reduce the problem of publication bias and provide more accurate data for future meta-analyses. It is also hoped that epiGAD will foster collaboration between the different epilepsy genetics groups around the world, and faciliate formation of a network of investigators in epilepsy genetics. There are 4 databases within epiGAD: - the susceptibility genes database - the epilepsy pharmacogenetics database - the meta-analysis database - the genome-wide association studies (GWAS) database The susceptibility genes database compiles all studies related to putative epilepsy susceptibility genes (eg. interleukin-1-beta in TLE), while the pharmacogenetics studies in epilepsy (eg. ABCB1 studies) are stored in ''phamacogenetics''. The meta-analysis database compiles all existing published epilepsy genetic meta-analyses, whether for susceptibility genes, or pharmacogenetics. The GWAS database is currently empty, but will be filled once GWAS are published. Sponsors: The epiGAD website is supported by the ILAE Genetics Commission.
Proper citation: Epilepsy Genetic Association Database (RRID:SCR_006840) Copy
http://www.broadinstitute.org/annotation/tetraodon/
This database have been funded by the National Human Genome Research Institute (NHGRI) to produce shotgun sequence of the Tetraodon nigriviridis genome. The strategy involves Whole Genome Shotgun (WGS) sequencing, in which sequence from the entire genome is generated. Whole genome shotgun libraries were prepared from Tetraodon genomic DNA obtained from the laboratory of Jean Weissenbach at Genoscope. Additional sequence data of approximately 2.5X coverage of Tetraodon has also been generated by Genoscope in plasmid and BAC end reads. Broad and Genoscope intend to pool their data and generate whole genome assemblies. Tetraodon nigroviridis is a freshwater pufferfish of the order Tetraodontiformes and lives in the rivers and estuaries of Indonesia, Malaysia and India. This species is 20-30 million years distant from Fugu rubripes, a marine pufferfish from the same family. The gene repertoire of T. nigroviridis is very similar to that of other vertebrates. However, its relatively small genome of 385 Mb is eight times more compact than that of human, mostly because intergenic and intronic sequences are reduced in size compared to other vertebrate genomes. These genome characteristics along with the large evolutionary distance between bony fish and mammals make Tetraodon a compact vertebrate reference genome - a powerful tool for comparative genetics and for quick and reliable identification of human genes.
Proper citation: Tetraodon nigroviridis Database (RRID:SCR_007123) Copy
GenePath is a web-enabled intelligent assistant for the analysis of genetic data and for discovery of genetic networks. GenePath uses abductive inference to elucidate network constraints and logic to derive consistent networks. Typically, it starts with a set of genetic experiments, uses a set of embedded rules (patterns) to infer relations between genes and outcome, and based on these relations constructs a genetic network.
Proper citation: GenePath (RRID:SCR_007974) Copy
http://upr.eagle-i.net/i/0000012c-9dd1-fddf-95a5-371e80000000
Core facility that provides the following services: Necropsy. The Sabana Seca Field Station (SSFS) is the administrative headquarters for the Caribbean Primate Research Center, or CPRC. This area contains offices, a clinic, and laboratories for reproductive biology and bone densitometry, necropsy and maintenance buildings. It houses rhesus monkeys from the CS colony or from the CS genetic line.
Proper citation: UPR Sabana Seca Field Station Caribbean Primate Research Center (RRID:SCR_010134) Copy
http://fcon_1000.projects.nitrc.org/indi/enhanced/
Dataset of 1000 characterized community-ascertained participants using state-of-the-art multiband imaging-based resting state fMRI (R-fMRI) and diffusion tensor imaging (DTI), genetics, and a deep phenotyping protocol from a large cross-sectional sample of brain development, maturation and aging (ages 6 - 85 yrs). The Center for Magnetic Resonance Research (CMRR), University of Minnesota, provided the NKI-RS effort with the latest version of the Multiband EPI sequence (Xu et al. 2012) and associated image reconstruction algorithms, enabling the acquisition of state-of-the-art imaging datasets for this large-scale imaging effort. The enhanced NKI-RS expands upon the phenotypic protocol of the original NKI-RS and captures a broad range of behavioral and cognitive phenomenology relevant to psychiatric health and illness. The validity and value of assessments were evaluated by consulting leaders in the field of psychiatric phenotyping.
Proper citation: NKI-RS Enhanced Sample (RRID:SCR_010461) Copy
http://csbio.unc.edu/CCstatus/index.py?run=Geneseek
MUGA genotypes for 458 samples from the developing CC lines described in the February 2012 issue of Genetics. Genotypes for 168 reference strains that include biological and technical replicates for the the 8 CC founder strains and their F1 crosses are also provided. Genotype calls are those reported by Illumina. All results are provided as comma separated files with one row per marker. Each marker is identified by a probe name and its genomic position in NCBI Build 37.
Proper citation: MUGA (RRID:SCR_014072) Copy
https://vgn.uvm.edu/bioinformatics/
Core provides expertise in biostatistics, microarray data analysis, proteome informatics, next generation sequencing data analysis, functional analysis, database development and information technology, including data storage infrastructure and high performance computing. Working closely with VGN Proteomics Facility, offers investigators experimental design consultations, comprehensive data analysis, data management and publishing, and manuscript and grant support. Core personnel also engage in teaching and training activities for data analysis and compute resources necessary for VGN network investigators. Our goal is to provide network researchers with bioinformatics expertise.
Proper citation: Vermont University Genetics Network Bioinformatics Core Facility (RRID:SCR_017686) Copy
http://www.nationwidechildrens.org/genomics
Core performs and analyzes integrated clinical genomic, molecular, microarray, FISH, and cytogenetic analyses to diagnose broad range of inherited diseases and cancer. Serves as centralized clinical testing laboratory for Children Oncology Group leukemia, Wilms tumor, medulloblastoma, and rhabdomyosarcoma studies. Emphasizes collaborative interactions between clinicians, physician-scientists, and basic science investigators to quickly transition cutting edge research results into cutting edge diagnostics, using technology platforms. Services include Whole Exome Sequencing (WES),cytogenetic chromosome analysis,Fluorescence in situ Hybridization,Chromosomal microarray analysis,Molecular Genetic Testing - Inherited Diseases,Molecular Genetic Testing - Cancer.
Proper citation: Steve and Cindy Rasmussen Institute for Genomic Medicine Clinical Laboratory Core Facility at Nationwide Children�s Hospital (RRID:SCR_017840) Copy
http://www.einstein.yu.edu/departments/genetics/resources/molecular-cytogenetics-core.aspx
Core provides tools for preparation of human and murine samples suitable for molecular genetic and cytogenetic analysis of entire genome. These tools include establishment of EBV transformed cell lines; isolation of DNA and mRNA from variety of tissue culture samples as well as primary biopsies; preparation of metaphase chromosomes suitable for fluorescence in situ hybridization (FISH) and Spectral Karyotyping (SKY) or whole chromosome paints for human and mouse genome. Core personnel is trained to hybridize commercial probes and to designed locus specific probes for regions of interest to investigators. All probes are custom designed and in house generated.
Proper citation: Albert Einstein College of Medicine Molecular Cytogenetics Core Facility (RRID:SCR_017815) Copy
http://sites.northwestern.edu/htal/
Core provides expertise and resources for large scale biology. Helps to set up, run, gather data and perform analysis in drug discovery research, biochemistry, cell and organismal biology, functional genomic screening, and synthetic genetic. Works with proteins, nucleic acids, small model organisms, and microbial strains. Provides tissue culture,produces and uses lentivirus particles, screens compound libraries, does experiments for investigators,generates preliminary data to figure out if idea is workable, discusses project development. Services include Macromolecular binding, biochemical, and cell-based assays,High content screening with widefield or confocal optics,Nanoliter liquid handling up to 1536-well density,Whole-plate kinetic assays (ion currents, GPCR signaling),Compound library screening,CRISPR/Cas9 screening (multiplexed libraries),Analysis of large data sets,Fluorescence Thermal Shift assay (measures protein melting),Complex liquid handling work flows.
Proper citation: Northwestern University High Throughput Analysis Laboratory Core Facility (RRID:SCR_017879) Copy
https://github.com/chr1swallace/coloc
Software package to perform genetic colocalisation analysis of two potentially related phenotypes, to ask whether they share common genetic causal variant(s) in a given region.Colocalisation Tests of Two Genetic Traits.
Proper citation: coloc (RRID:SCR_026041) Copy
Full service viral vector production core that provides investigators access to vector technology for preclinical studies and other basic research applications. Staff will provide expert consultation services for advanced study design, safe use of viral vector technologies and viral construction services for multiple viral vector types.
Proper citation: Columbia University Zuckerman Institute Molecular Tools Core Facility (RRID:SCR_026201) Copy
https://cellmodelpassports.sanger.ac.uk/
Hub for clinical, genetic and functional datasets of preclinical cancer models.Provides details of cell model relationships, patient and clinical information, as well as access to associated genetic and functional datasets. Passports database contains curated details and standardized annotation for cell models, including cancer organoid cultures. Users can navigate database via tissue, cancer-type, genetic feature and data availability to select model. REST-API provides programmatic data access and exploration.
Proper citation: Cell Model Passports (RRID:SCR_027682) Copy
Company provides medical laboratory services, specializing in genetic and genomic testing.
Proper citation: PacGenomics (RRID:SCR_027700) Copy
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