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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
http://www.uky.edu/coa/adc/investigators-research-resources
An organization which includes a tissue bank, a database, study design consultation, clinical resources, and a community registry database. The UK-ADC shares data with the NIA national database (NACC), as well as with independent, qualified investigators both within and outside the UK-ADC. This resource's associated tissue bank is comprised of anonymized brain tissue, blood, and cerebrospinal fluid samples from patients in the clinic, as well as frozen post-mortem brain tissue samples. This organization also shares research resources with the National Alzheimer's Coordinating Center (NACC), NACC collaborative initiatives, the Alzheimer's Disease Neuroimaging Initiative (ADNI), other Alzheimer Disease Centers (ADCs), and any qualified investigators from either the University of Kentucky or the general scientific community.
Proper citation: University of Kentucky's Alzheimer's Disease Center (RRID:SCR_008766) Copy
An initiative for Alzheimer's disease clinical studies that works to facilitate the discovery, development and testing of new drugs, and is a part of the Alzheimer's Disease Prevention Initiative. This resource has an emphasis on expanding the range of its patients, mainly by enhancing the recruitment of minority groups. There is a further emphasis placed on testing agents that cannot be patented, as well as developing novel compounds that had been developed by individuals, academic institutions and drug discovery units. This resource also helps in the development of Alzheimer's disease centers to carry out studies, as well as establish administrative, data, operations and medical cores in San Diego. This organization is specifically involved in studies demonstrating the lack of benefit associated, previously used treatments such as: the use of estrogen, non-steroidal anti-inflammatory drugs, B vitamins and a statin drug. The Alzheimer's Disease Cooperative Study also develops assessment instruments to be used in clinical trials. The most frequently used of these tools include: the Alzheimer's Disease Assessment Scale-Cognitive sub-scale (ADAS-cog), Activities of Daily Living (ADL), and the Clinical Global Impression of Change Scale (CGIC). There is also an associated tissue bank at UCSD that includes materials from the clinical trials including: human tissue, blood, plasma, DNA, urine and cerebrospinal fluid.
Proper citation: Alzheimer's Disease Cooperative Study (RRID:SCR_008254) Copy
A biorepository of human biological material from healthy and diseased populations with a special focus on subjects with Alzheimer's disease, multiple sclerosis, Parkinson's disease and other neurological disorders. Data is collected longitudinally. PrecisionMed aims to facilitate research in genetics, drug discovery, biomarker research and molecular diagnostics. Materials collected include DNA, RNA, plasma and cerebrospinal fluid, among others.
Proper citation: PrecisionMed (RRID:SCR_010486) Copy
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