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SciCrunch Registry is a curated repository of scientific resources, with a focus on biomedical resources, including tools, databases, and core facilities - visit SciCrunch to register your resource.

(last updated: Oct 12, 2019)

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Resource NameResource TypeDescriptionKeywordsResource IDProper CitationParent OrganizationRelated ConditionFunding AgencyRelationReferenceWebsite StatusAlternate IDsAlternate URLsOld URLs
Wellcome Trust Case Control ConsortiumResource, data or information resourceConsortium of 50 research groups across the UK to harness the power of newly-available genotyping technologies to improve our understanding of the aetiological basis of several major causes of global disease. The consortium has gathered genotype data for up to 500,000 sites of genome sequence variation (single nucleotide polymorphisms or SNPs) in samples ascertained for the disease phenotypes. Analysis of the genome-wide association data generated has lead to the identification of many SNPs and genes showing evidence of association with disease susceptibility, some of which will be followed up in future studies. In addition, the Consortium has gained important insights into the technical, analytical, methodological and biological aspects of genome-wide association analysis. The core of the study comprised an analysis of 2,000 samples from each of seven diseases (type 1 diabetes, type 2 diabetes, coronary heart disease, hypertension, bipolar disorder, rheumatoid arthritis and Crohn's disease). For each disease, the case samples have been ascertained from sites widely distributed across Great Britain, allowing us to obtain considerable efficiencies by comparing each of these case populations to a common set of 3,000 nationally-ascertained controls also from England, Scotland and Wales. These controls come from two sources: 1,500 are representative samples from the 1958 British Birth Cohort and 1,500 are blood donors recruited by the three national UK Blood Services. One of the questions that the WTCCC study has addressed relates to the relative merits of these alternative strategies for the generation of representative population cohorts. Genotyping for this main Case Control study was conducted by Affymetrix using the (commercial) Affymetrix 500K chip. As part of this study a total of 17,000 samples were typed for 500,000 SNPs. There are two additional components to the study. First, the WTCCC award is part-funding a study of host resistance to infectious diseases in African populations. The same approach has been used to type 2,000 cases of tuberculosis (TB) and 2,000 cases of malaria, as well as 2,000 shared controls. As well as addressing diseases of major global significance, and extending WTCCC coverage into the area of infectious disease, the inclusion of samples of African origin has obvious benefits with respect to methodological aspects of genome-wide association analysis. Second, the WTCCC has, for four additional diseases (autoimmune thyroid disease, breast cancer, ankylosing spondylitis, multiple sclerosis), completed an analysis of 15,000 SNPs designed to represent a large proportion of the known non-synonymous coding SNPs across the genome. This analysis has been performed at the WTSI using a custom Infinium chip (Illumina). Data release The genotypic data of the control samples (1958 British Birth Cohort and UK Blood Service) and from seven diseases analyzed in the main study are now available to qualified researchers. Summary genotype statistics for these collections are available directly from the website. Access to the individual-level genotype data and summary genotype statistics is by application to the Consortium Data Access Committee (CDAC) and approval subject to a Data Access Agreement. WTCCC2: A further round of GWA studies were funded in April 2008. These include 15 WTCCC-collaborative studies and 12 independent studies be supported totaling approximately 120,000 samples. Many of the studies represent major international collaborative networks that have together assembled large sample collections. WTCCC2 will perform genome-wide association studies in 13 disease conditions: Ankylosing spondylitis, Barrett's oesophagus and oesophageal adenocarcinoma, glaucoma, ischaemic stroke, multiple sclerosis, pre-eclampsia, Parkinson's disease, psychosis endophenotypes, psoriasis, schizophrenia, ulcerative colitis and visceral leishmaniasis. WTCCC2 will also investigate the genetics of reading and mathematics abilities in children and the pharmacogenomics of statin response. Over 60,000 samples will be analyzed using either the Affymetrix v6.0 chip or the Illumina 660K chip. The WTCCC2 will also genotype 3,000 controls each from the 1958 British Birth cohort and the UK Blood Service control group, and the 6,000 controls will be genotyped on both the Affymetrix v6.0 and Illumina 1.2M chips. WTCCC3: The Wellcome Trust has provided support for a further round of GWA studies in January 2009. These include 5 WTCCC-collaborative studies to be carried out in WTCCC3 and 5 independent studies, across a range of diseases. Many of the studies represent major international collaborative networks that have together assembled large sample collections. WTCCC3 will perform genome-wide association studies in the following 4 disease conditions: primary biliary cirrhosis, anorexia nervosa, pre-eclampsia in UK subjects, and the interactions between donor and recipient DNA related to early and late renal transplant dysfunction. The WTCCC3 will also carry out a pilot in a study of the genetics of host control of HIV-1 infection. Over 40,000 samples will be analyzed using the Illumina 660K chip. The WTCCC3 will utilize the 6,000 control genotypes generated by the WTCCC2.gene, genomic, genetics, microarray, genome-wide association study, snp, genome-wide association, blood, dna, genotype, variation, genome, sequence variant, copy number variation, genetic variation, phenotype, diseaseSCR_001973(Wellcome Trust Case Control Consortium, RRID:SCR_001973)Wellcome Trust Sanger Institute; Hinxton; United Kingdom Bipolar Disorder, Coronary artery disease, Crohn's disease, Rheumatoid arthritis, Type 1 diabetes, Type 2 diabetes, Hypertension, Control, Multiple sclerosis, Breast cancer, Ankylosing spondylitis, Autoimmune thyroid disease, Malaria, Tuberculosis, Inflammatory bowel disease, Barrett's esophagus, Esophageal adenocarcinoma, Glaucoma, Ischemic stroke, Pre-eclampsia, Parkinson's disease, Psychosis endophenotypes, Psoriasis, Schizophrenia, Ulcerative colitis, Visceral leishmaniasis, Primary biliary cirrhosis, Anorexia nervosa, Human immunodeficiency virus, Renal transplant dysfunctionBill and Melinda Gates Foundation, Wellcome Trust, Wellcome Trust Sanger Institute; Hinxton; United Kingdomrelated to: Psychiatric Genomics ConsortiumPMID:17554300Last checked downnif-0000-10551
AlkermesResource, portal, organization portal, commercial organization, data or information resourceA biopharmaceutical company that focuses on central nervous system (CNS) diseases. The company is the result of a merger between Alkermes, Inc. and Elan Drug Technologies (EDT), the former drug formulation and manufacturing division of Elan Corporation, plc. The company is headquartered in Dublin, and has an R&D center in Waltham, Massachusetts and manufacturing facilities in Athlone, Ireland; Gainesville, Georgia; and Wilmington, Ohio. Alkermes has more than 20 commercial drug products and candidates that address serious and chronic diseases such as addiction, schizophrenia, diabetes and depression. Among these, five products are primary to the company: risperidone Long-Acting Injection (Risperdal Consta) for schizophrenia and bipolar 1 disorder, paliperidone palmitate (Invega Sustenna in the U.S., Xeplion in Europe) for schizophrenia, 4-aminopyridine (Ampyra in the U.S., Fampyra in Europe) to improve walking in patients with multiple sclerosis, naltrexone for extended-release injectable suspension (Vivitrol) for alcohol and opioid dependence, and exenatide extended-release for injectable suspension (Bydureon) for the treatment of type 2 diabetes. Bydureon is a once-weekly, long-acting form of the drug exenatide (Byetta) and was developed through a partnership between Amylin, Alkermes and Eli Lilly. It is approved in Europe and the U.S. (Wikipedia)central nervous system, disease, biopharmaceutical company, drugSCR_010497(Alkermes, RRID:SCR_010497)Central nervous system disease, Addiction, Schizophrenia, Diabetes, Depressive Disorder, Bipolar Disorder, Multiple Sclerosis, Alcohol dependence, Opioid dependeneLast checked upnlx_158068
GWASrapResource, data analysis service, data access protocol, production service resource, analysis service resource, data set, web service, service resource, software resource, data or information resourceGWASrap 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.genome wide association study, annotation, next generation sequencing, genetic variant, prioritize, visualize, genome, chromosome, functional prediction, transcription factor-binding site, mirna, mirna target site, prediction, target site, transcription factor, binding site, statistics, trait/disease-associated snp, single nucleotide polymorphism, trait, disease, representation, linkage disequilibriumSCR_013144(GWASrap, RRID:SCR_013144)University of Hong Kong; Hong Kong; China Bipolar Disorder, Alzheimer's disease, Depression, Parkinson Disease, Diabetes Mellitus, Amyotrophic Lateral Sclerosis, Rheumatoid Arthritis, HIV-1 Disease, Human immunodeficiency virus, Hematopoietic System Disease, Prostate Cancer, Coronary Artery Disease, Schizophrenia, Arteriopathy, Multiple Sclerosis, Crohn''''s Disease, Hypertension, Breast Cancerrelated to: GWASdbPMID:22801476Last checked upnlx_151497
PatientsLikeMeResource, data or information resourceA for-profit health data-sharing platform that can transform the way patients manage their conditions, change the way industry conducts research and improve patient care. PatientsLikeMe aligns patient and industry interests through data-sharing partnerships. They work with trusted nonprofit, research and industry Partners who use this health data to improve products, services and care for patients. They take the information patients share about their experience with the disease and sell it to their partners (i.e., companies that are developing or selling products to patients). These products may include drugs, devices, equipment, insurance, and medical services. Except for the restricted personal information entered when registering for the site, participants should expect that every piece of information submitted (even if it is not currently displayed) may be shared with their partners and any member of PatientsLikeMe, including other patients. They do not rent, sell or share personally identifiable information for marketing purposes or without explicit consent. Because they believe in transparency, they tell members exactly what they do and do not do with their data. Patients have the opportunity to share both personal stories and health data about their conditions to help uncover great ideas and new knowledge. By sharing information on the site, they can put their disease experiences in context and find answers to the questions they have. Every partnership we develop must bring them closer to aligning patient and industry interests. Their end goal is improved patient care and quality of life.patient, treatment, symptom, condition, health, data sharing, patient care, disease, community building portal, blogSCR_003781(PatientsLikeMe, RRID:SCR_003781)Amyotrophic Lateral Sclerosis, Motor neuron degeneration, Primary Lateral Sclerosis, Progressive Muscular Atrophy, Parkinson's disease, Multiple Sclerosis, HIV, AIDS, Mood condition, Depressive Disorder, Anxiety, Bipolar Disorder, Obsessive-Compulsive Disorder, Post-Traumatic Stress Disorder, Multiple System Atrophy, Progressive Supranuclear Palsy, Neuromyelitis Optica, Fibromyalgia, Chronic Fatigue, ME, Epilepsy, Organ TransplantLast checked upnlx_143529
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