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http://jjwanglab.org/gwasrap

GWASrap is a comprehensive web-based bioinformatics tool to systematically support variant representation, annotation and prioritization for data generated from genome-wide association studies (GWAS) and Next Generation Sequencing (NGS). Our web-based framework utilizes state-of-the-art web technologies to maximize user interaction and visualization of the results. For a given SNP dataset with its P-values, GWASrap will first provide a Circos-style plot to visualize any genetic variants at either the genome or chromosome level. The tool then combines different genomic features (SNP/CNV density, disease susceptibility loci, etc.) with comprehensive annotations that give the researcher an intuitive view of the functional significance of the different genomic regions. The detailed statistics of the underlying study are also displayed on the web page, including variant distribution in different functional categories, classic Manhattan plot and QQ plot. Users can perform interactive operations in the Manhattan panel, such as zooming in and out to search regions or markers of interest. The system can also display a comprehensive range of relevant information from variant genetic attributes to nearby genomic elements, such as enhancers or non-coding RNAs. Furthermore, researchers can obtain extensive functional predictions for various features including transcription factor-binding sites, miRNA and miRNA target sites, and their predicted changes caused by the genetic variants. Our system can re-prioritize genetic variants by combining the original statistical value and variant prioritization score based on a simple additive effect equation. Researchers can also re-evaluate the significance of a trait/disease-associated SNP (TAS) using the dynamic linkage disequilibrium (LD) panel or the tree-like network panel. The GWASrap supports input variants in different formats, not only common variants with a dbSNP rs ID but also rare variants from NGS data, which are represented by chromosome and locations. GWASrap provides a range of web services for data retrieving about the annotation information and effect prediction of each variant in dbSNP using the SOAP interface. The WSDL for each service is available in the API tab. Each service returns JSON string including all related information with key/value. GWASrap provides running results about some current published GWAS as well as a category view for each hot disease / trait. The dataset is brought from published database GWAS or curated from literature.

Proper citation: GWASrap (RRID:SCR_013144) Copy   

•   Source: SciCrunch Registry

http://www.msbrainbank.org.au

A biomaterial supply resource which provides high quality and well-chracaterized brain tissue samples for MS research. Registered MS brain donors and their families are kept up to date on the latest progress in MS research.

Proper citation: MS Research Australia Brain Bank (RRID:SCR_013840) Copy   

•   Source: SciCrunch Registry

http://www.dna-network.ac.uk/

THIS RESOURCE IS NO LONGER IN SERVICE, documented on October 6, 2011. A project to collect, store and study DNA samples from tens of thousands of healthy volunteers and patients with diseases of major public importance. It aims to identify genes that are risk factors for the conditions. The network consists of 13 collections led by different clinicians throughout the UK. At its heart is an archive infrastructure which manages the DNA and the information associated with it. The European Collection of Cell Cultures in Porton Down handles the blood, peripheral blood lymphocytes and EBV-transformed cell lines, while the Centre for Integrated Genomic Medical Research at Manchester University manages the DNA. These banked samples are available to UK and international researchers, who can examine data and set up collaborative work by registering at the DNA Network's website. The conditions for which samples are currently collected and stored are: Acute leukemia, Asthma and eczema, Late onset Alzheimer's disease, Breast cancer, Colorectal cancer, Coronary artery disease, Glomerulonephritis, Hypertension, Age-related macular degeneration, Multiple sclerosis, Parkinson's disease, Type 2 diabetes, Unipolar depression.

Proper citation: UK DNA Banking Network (RRID:SCR_010619) Copy   

•   Source: SciCrunch Registry

http://ranchobiosciences.com/gse13732/

Curated data set from a study that developed biomarkers that may predict development of Clinically Isolated Syndrome (CIS) into a full multiple sclerosis. Expression data was taken from 37 CIS patients and 28 healthy controls at baseline. 34 CIS patients and 10 healthy controls were resampled at a second time point, approximately one year later. Patients were followed clinically for up to two years to determine the TTC (time to conversion to MS).

Proper citation: GSE13732 (RRID:SCR_003648) Copy   

•   Source: SciCrunch Registry

http://www.bcgsc.ca/project/pleiades-promoter-project

Project to generate human DNA promoters of less than 4 kb (MiniPromoters) to drive gene expression in defined brain regions of therapeutic interest for diseases such as Alzheimer, Parkinson, Huntington, Amyotrophic Lateral Sclerosis, Multiple Sclerosis, Spinocerebellar Ataxia, Depression, Autism, and Cancer. Project develops and shares tools like human MiniPromoters that drive region- and cell-specific gene expression in the mouse brain, expression constructs, mouse embryonic stem cell lines, and knock-in mice all of which carry brain-specific MiniPromoters. Project is daughter of Genome Canada Project, Atlas of Gene Expression in Mouse Development, within which mouse brain gene expression data have already been gathered. Project team has collaborated with International BioPharma Solutions Ltd., management and communications consulting company specializing in product development and commercialization advice. Project will explore challenging interface between science and journalism with focus on genomics and gene therapy.

Proper citation: Pleiades Promoter Project: Genomic Resources Advancing Therapies for Brain Disorders (RRID:SCR_003282) Copy   

•   Source: SciCrunch Registry

http://ki.se/en/research/ki-biobank

KI Biobank is an accredited core facility offering sample collection services. KI Biobank is located at the Department of Medical Epidemiology and Biostatistics. KI Biobank offer infrastructure for pre analytical sample handling and provide researchers guidance on how samples should be taken and labeled. The processes comprise registration, handling, storage and distribution of samples. KI Biobank also offers DNA-extraction from blood and saliva. In order to insure complete traceability on samples and belonging information all processes are controlled by a Laboratory Information Management System (LIMS). For every new study a contract is established describing the study and the disposition rights. We also help in writing Biobank agreements including multicenteravtal and Material Transfer Agreement. KI Biobank is, according to the Biobank law, responsible for all sample collections handled within the core facility and those that are stored on the departments on KI campus. Clinical sample collections are handled by the Biobank units at the respective hospitals within the Stockholm County Council. Besides the samples that are stored centrally at KI Biobank, KI Biobank is also the administrative biobank for research sample collections at Karolinska Institutet that are stored and administrated at the departments. All research sample collections must be reported to KI Biobank. The following types of sample collections are registered in the biobank; sample collections taken within the regular health care that has been transferred to Karolinska Institutet with an agreement of transfer, samples taken from healthy individuals or other persons out of the regular health care and samples that have been taken abroad.

Proper citation: Karolisnka Biobank (RRID:SCR_004355) Copy   

•   Source: SciCrunch Registry

http://ki.se/en/imm/the-imse-studies-imse-i-and-imse-ii

Immunomodulatory drugs in multiple sclerosis (IMSE) is a nation-wide pharmacoepidemiological and genetic study on persons treated with Tysabri. The study focuses on response to treatment and development of neutralizing antibodies, and to perform large-scale genetic studies. Sample types * EDTA whole blood * DNA * Plasma Number of sample donors: 1293 (June 2010)

Proper citation: KI Biobank - IMSE (RRID:SCR_005899) Copy   

•   Source: SciCrunch Registry