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Next generation sequencing and genotyping services provided to investigators working to discover genes that contribute to disease. On-site statistical geneticists provide insight into analysis issues as they relate to study design, data production and quality control. In addition, CIDR has a consulting agreement with the University of Washington Genetics Coordinating Center (GCC) to provide statistical and analytical support, most predominantly in the areas of GWAS data cleaning and methods development. Completed studies encompass over 175 phenotypes across 530 projects and 620,000 samples. The impact is evidenced by over 380 peer-reviewed papers published in 100 journals. Three pathways exist to access the CIDR genotyping facility: * NIH CIDR Program: The CIDR contract is funded by 14 NIH Institutes and provides genotyping and statistical genetic services to investigators approved for access through competitive peer review. An application is required for projects supported by the NIH CIDR Program. * The HTS Facility: The High Throughput Sequencing Facility, part of the Johns Hopkins Genetic Resources Core Facility, provides next generation sequencing services to internal JHU investigators and external scientists on a fee-for-service basis. * The JHU SNP Center: The SNP Center, part of the Johns Hopkins Genetic Resources Core Facility, provides genotyping to internal JHU investigators and external scientists on a fee-for-service basis. Data computation service is included to cover the statistical genetics services provided for investigators seeking to identify genes that contribute to human disease. Human Genotyping Services include SNP Genome Wide Association Studies, SNP Linkage Scans, Custom SNP Studies, Cancer Panel, MHC Panels, and Methylation Profiling. Mouse Genotyping Services include SNP Scans and Custom SNP Studies.
Proper citation: Center for Inherited Disease Research (RRID:SCR_007339) Copy
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on August 26,2019. In October 2016, T1DBase has merged with its sister site ImmunoBase (https://immunobase.org). Documented on March 2020, ImmunoBase ownership has been transferred to Open Targets (https://www.opentargets.org). Results for all studies can be explored using Open Targets Genetics (https://genetics.opentargets.org). Database focused on genetics and genomics of type 1 diabetes susceptibility providing a curated and integrated set of datasets and tools, across multiple species, to support and promote research in this area. The current data scope includes annotated genomic sequences for suspected T1D susceptibility regions; genetic data; microarray data; and global datasets, generally from the literature, that are useful for genetics and systems biology studies. The site also includes software tools for analyzing the data.
Proper citation: T1DBase (RRID:SCR_007959) Copy
http://www.autoimmunitycenters.org/
Nine centers that conduct clinical trials and basic research on new immune-based therapies for autoimmune diseases. This program enhances interactions between scientists and clinicians in order to accelerate the translation of research findings into medical applications. By promoting better coordination and communication, and enabling limited resources to be pooled, ACEs is one of NIAID''''s primary vehicles for both expanding our knowledge and improving our ability to effectively prevent and treat autoimmune diseases. This coordinated approach incorporates key recommendations of the NIH Autoimmune Diseases Research Plan and will ensure progress in identifying new and highly effective therapies for autoimmune diseases. ACEs is advancing the search for effective treatments through: * Diverse Autoimmunity Expertise Medical researchers at ACEs include rheumatologists, neurologists, gastroenterologists, and endocrinologists who are among the elite in their respective fields. * Strong Mechanistic Foundation ACEs augment each clinical trial with extensive basic studies designed to enhance understanding of the mechanisms responsible for tolerance initiation, maintenance, or loss, including the role of cytokines, regulatory T cells, and accessory cells, to name a few. * Streamlined Patient Recruitment The cooperative nature of ACEs helps scientists recruit patients from distinct geographical areas. The rigorous clinical and basic science approach of ACEs helps maintain a high level of treatment and analysis, enabling informative comparisons between patient groups.
Proper citation: Autoimmunity Centers of Excellence (RRID:SCR_006510) Copy
http://www.nkdep.nih.gov/lab-evaluation/gfr-calculators.shtml
Glomerular Filtration Rate (GFR) calculators to estimate kidney function for adults (MDRD GFR Calculator) and children (Schwartz GFR Calculator). In adults, the recommended equation for estimating glomerular filtration rate (GFR) from serum creatinine is the Modification of Diet in Renal Disease (MDRD) Study equation. The IDMS-traceable version of the MDRD Study equation is used. Currently the best equation for estimating glomerular filtration rate (GFR) from serum creatinine in children is the Bedside Schwartz equation for use with creatinine methods with calibration traceable to IDMS. Using the original Schwartz equation with a creatinine value from a method with calibration traceable to IDMS will overestimate GFR.
Proper citation: Glomerular Filtration Rate Calculators (RRID:SCR_006443) Copy
http://www.nkdep.nih.gov/lab-evaluation/gfr/creatinine-standardization.shtml
Standard specification to reduce inter-laboratory variation in creatinine assay calibration and therefore enable more accurate estimates of glomerular filtration rate (eGFR). Created by NKDEP''''s Laboratory Working Group in collaboration with the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and the European Communities Confederation of Clinical Chemistry (now called the European Federation of Clinical Chemistry and Laboratory Medicine), the effort is part of a larger NKDEP initiative to help health care providers better identify and treat chronic kidney disease in order to prevent or delay kidney failure and improve patient outcomes. Recommendations are intended for the USA and other countries or regions that have largely completed standardization of creatinine calibration to be traceable to an isotope dilution mass spectrometry (IDMS) reference measurement procedure. The program''''s focus is to facilitate the sharing of information to assist in vitro diagnostic manufacturers, clinical laboratories, and others in the laboratory community with calibrating their serum creatinine measurement procedures to be traceable to isotope dilution mass spectrometry (IDMS). The program also supports manufacturers'''' efforts to encourage their customers in the laboratory to coordinate use of standardized creatinine methods with implementation of a revised GFR estimating equation appropriate for use with standardized creatinine methods. Communication resources and other information for various segments of the laboratory community are available in the Creatinine Standardization Recommendations section of the website. Also available is a protocol for calibrating creatinine measurements using whole blood devices. The National Institute for Standards and Technology (NIST) released a standard reference material (SRM 967 Creatinine in Frozen Human Serum) for use in establishing calibrations for routine creatinine measurement procedures. SRM 967 was validated to be commutable with native serum samples for many routine creatinine procedures and is useful to establish or verify traceability to an IDMS reference measurement procedure. Establishing calibrations for serum creatinine methods using SRM 967 not only provides a mechanism for ensuring more accurate measurement of serum creatinine, but also enables more accurate estimates of GFR. For clinical laboratories interested in independently checking the calibration supplied by their creatinine reagent suppliers/manufacturers, periodic measurement of NIST SRM 967 should be considered for inclusion in the lab''''s internal quality assurance program. To learn more about SRM 967, including how to purchase it, visit the NIST website, https://www-s.nist.gov/srmors/quickSearch.cfm
Proper citation: Creatinine Standardization Program (RRID:SCR_006441) Copy
Annual report, standard analysis files and an online query system from the national data registry on the end-stage renal disease (ESRD) population in the U.S., including treatments and outcomes. The Annual Data Report is divided into two parts. The Atlas section displays data using graphs and charts. Specific chapters address trends in ESRD patient populations, quality of ESRD care, kidney transplantation outcomes, costs of ESRD care, Healthy People 2010 objectives, chronic kidney disease, pediatric ESRD, and cardiovascular disease special studies. The Reference Tables are devoted entirely to the ESRD population. The RenDER (Renal Data Extraction and Referencing) online data query system allows users to build data tables and maps for the ESRD population. National, state, and county level data are available. USRDS staff collaborates with members of Centers for Medicare & Medicaid Services (CMS), the United Network for Organ Sharing (UNOS), and the ESRD networks, sharing datasets and actively working to improve the accuracy of ESRD patient information.
Proper citation: United States Renal Data System (RRID:SCR_006699) Copy
A database which provides ribosome related data services to the scientific community, including online data analysis, rRNA derived phylogenetic trees, and aligned and annotated rRNA sequences. It specifically contains information on quality-controlled, aligned and annotated bacterial and archaean 16S rRNA sequences, fungal 28S rRNA sequences, and a suite of analysis tools for the scientific community. Most of the RDP tools are now available as open source packages for users to incorporate in their local workflow.
Proper citation: Ribosomal Database Project (RRID:SCR_006633) Copy
http://diabetes.niddk.nih.gov/dm/pubs/america/
A compilation and assessment of epidemiologic, public health, and clinical data on diabetes and its complications in the United States. Published by the National Diabetes Data Group of the National Institute of Diabetes and Digestive and Kidney Diseases, the book contains 36 chapters organized in five areas: * the descriptive epidemiology of diabetes in the United States based on national surveys and community-based studies, including prevalence, incidence, sociodemographic and metabolic characteristics, risk factors for developing diabetes, and mortality * the myriad complications that affect patients with diabetes * characteristics of therapy and medical care for diabetes * economic aspects, including health insurance and health care costs * diabetes in special populations, including African Americans, Hispanics, Asian and Pacific Islanders, Native Americans, and pregnant women. Diabetes in America, 2nd Edition, has been designed to serve as a reliable scientific resource for assessing the scope and impact of diabetes and its complications, determining health policy and priorities in diabetes, and identifying areas of need in research. The intended audience includes health policy makers at the local and Federal levels who need a sound quantitative base of knowledge to use in decision making; clinicians who need to know the probability that their patients will develop diabetes and the prognosis of the disease for complications and premature mortality; persons with diabetes and their families who need sound information on which to make decisions about their life with diabetes; and the research community which needs to identify areas where important scientific knowledge is lacking.
Proper citation: Diabetes in America (RRID:SCR_006754) Copy
http://ligand-expo.rutgers.edu/
An integrated data resource for finding chemical and structural information about small molecules bound to proteins and nucleic acids within the structure entries of the Protein Data Bank. Tools are provided to search the PDB dictionary for chemical components, to identify structure entries containing particular small molecules, and to download the 3D structures of the small molecule components in the PDB entry. A sketch tool is also provided for building new chemical definitions from reported PDB chemical components.
Proper citation: Ligand Expo (RRID:SCR_006636) Copy
https://repository.niddk.nih.gov/home/
NIDDK Central Repositories are two separate contract funded components that work together to store data and samples from significant, NIDDK funded studies. First component is Biorepository that gathers, stores, and distributes biological samples from studies. Biorepository works with investigators in new and ongoing studies as realtime storage facility for archival samples.Second component is Data Repository that gathers, stores and distributes incremental or finished datasets from NIDDK funded studies Data Repository helps active data coordinating centers prepare databases and incremental datasets for archiving and for carrying out restricted queries of stored databases. Data Repository serves as Data Coordinating Center and website manager for NIDDK Central Repositories website.
Proper citation: NIDDK Central Repository (RRID:SCR_006542) Copy
http://www.niaid.nih.gov/topics/transplant/research/Pages/fundedBasics.aspx#NHPTCSP
Cooperative program for research on nonhuman primate models of kidney, islet, heart, and lung transplantation evaluating the safety and efficacy of existing and new treatment regimens that promote the immune system''''s acceptance of a transplant and to understand why the immune system either rejects or does not reject a transplant. This program bridges the critical gap between small-animal research and human clinical trials. The program supports research into the immunological mechanisms of tolerance induction and development of surrogate markers for the induction, maintenance, and loss of tolerance.
Proper citation: Nonhuman Primate Transplantation Tolerance Cooperative Study Group (RRID:SCR_006847) Copy
Information dissemination service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) established to increase knowledge and understanding about diseases of the kidneys and urologic system among people with these conditions and their families, health care professionals, and the general public: online, in booklets and fact sheets, by email, and over the phone. To carry out this mission, NKUDIC works closely with a coordinating panel of representatives from Federal agencies; voluntary organizations on the national level; professional groups; and State health departments to identify and respond to informational needs about kidney and urologic diseases. NKUDIC provides the following informational products and services: * Response to inquiries about kidney and urologic diseases-ranging from information about available patient and professional education materials to statistical data. By phone (8:30 a.m. to 5 p.m. eastern time, M-F), fax, mail, and email. * Publications about specific kidney and urologic diseases, provided free of copyright, in varying reading levels. Available online or as booklets and brochures. (See our Publications Catalog.) NKUDIC also sends publications to health fairs and community events. Please contact us for more information. * Referrals to health professionals through the National Library of Medicine''''s MEDLINEplus includes a consumer-friendly listing of organizations that will assist you in your search for physicians and other health professionals. * Exhibits at professional meetings specific to kidney and urologic diseases, as well as cross-cutting professional meetings. NKUDIC exhibits at 11 professional meetings, each year, including Society of Urologic Nurses and Associates, American Urologic Association, American Society of Nephrology, National Kidney Foundation, Polycystic Kidney Disease Research Foundation, American Academy of Family Physicians, American Academy of Physician Assistants, American Nurses Association, and the National Conference for Nurse Practitioners.
Proper citation: National Kidney and Urologic Diseases Information Clearinghouse (RRID:SCR_006842) Copy
https://github.com/vlink/marge
Software package that integrates genome wide genetic variation with epigenetic data to identify collaborative transcription factor pairs. Optimized to work with chromatin accessibility assays such as ATAC-seq or DNase I hypersensitivity, as well as transcription factor binding data collected by ChIP-seq. Used to identify combinations of cell type specific transcription factors while simultaneously interpreting functional effects of non-coding genetic variation.
Proper citation: Motif Mutation Analysis for Regulatory Genomic Elements (RRID:SCR_021902) Copy
A tool for performing multi-cluster gene functional enrichment analyses on large scale data (microarray experiments with many time-points, cell-types, tissue-types, etc.). It facilitates co-analysis of multiple gene lists and yields as output a rich functional map showing the shared and list-specific functional features. The output can be visualized in tabular, heatmap or network formats using built-in options as well as third-party software. It uses the hypergeometric test to obtain functional enrichment achieved via the gene list enrichment analysis option available in ToppGene.
Proper citation: ToppCluster (RRID:SCR_001503) Copy
http://digestive.niddk.nih.gov/statistics/statistics.aspx
A collection of statistics about specific digestive diseases, including prevalence, mortality, care delivery and cost.
Proper citation: Digestive Diseases Statistics for the United States (RRID:SCR_006703) Copy
Collection of human pancreas data and images. Platform to share data from human pancreas samples. Houses reference datasets from human pancreas samples, achieved through generosity of organ donors and their families.
Proper citation: Pancreatlas (RRID:SCR_018567) Copy
https://gitlab.com/rosen-lab/white-adipose-atlas
Single cell atlas of human and mouse white adipose tissue.
Proper citation: White Adipose Atlas (RRID:SCR_023625) Copy
http://www.utsouthwestern.edu/labs/acute-liver/
Clinical research network for gathering prospective data and bio-samples on acute liver failure in adults since 1998. Clinical histories and laboratory and outcome data are available. Sample types include serum, plasma, urine, DNA, and liver tissue.
Proper citation: Acute Liver Failure Study Group (RRID:SCR_001463) Copy
https://github.com/caleblareau/mgatk
Software python-based command line interface for processing .bam files with mitochondrial reads and generating high-quality heteroplasmy estimation from sequencing data. This package places a special emphasis on mitochondrial genotypes generated from single-cell genomics data, primarily mtscATAC-seq, but is generally applicable across other assays.
Proper citation: mgatk (RRID:SCR_021159) Copy
https://github.com/FunctionalUrology/MLme
Software toolkit for Machine Learning Driven Data Analysis. Simplifies machine learning for data exploration, visualization and analysis.
Proper citation: Machine Learning Made Easy (RRID:SCR_024439) Copy
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