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http://www.bh4.org/BH4DatabasesBiodef.asp
THIS RESOURCE IS NO LONGER IN SERVICE, documented on August 26, 2016. The BIODEF database have tabulated the most common clinical and laboratory data related to hyperphenylalaninaemia and tetrahydrobiopterin deficiencies. Additionally, there are data regarding treatment, outcome, and DNA analysis. Approximately 2% of newborns with hyperphenylalaninaemia are deficient in tetrahydrobiopterin. Selective screening must be performed in all instances where hyperphenylalaninaemia is detected by neonatal screening. In the last 20 years, 308 patients with tetrahydrobiopterin deficiencies have been recognized as a result of screening carried out, worldwide, in Departments of Paediatrics. Of these 308 patients, 181 suffered from 6-pyruvoyltetrahydropterin synthase deficiency, 92 from dihydropteridine reductase deficiency, 13 from pterin-4a-carbinolamine dehydratase deficiency, 12 from GTP cyclohydrolase I deficiency, and 10 are still unclassified. The BIODEF database have tabulated the most common clinical and laboratory data related to hyperphenylalaninaemia and tetrahydrobiopterin deficiencies. Additionally, there are data regarding treatment, outcome, and DNA analysis. Preliminary evaluation reveals that the degree of hyperphenylalaninaemia can vary from normal to 2500 mumol/L. Analyses of pterins in urine and measurement of dihydropteridine reductase activity from Guthrie cards are absolutely essential tests for accurate diagnosis. There is a regional (demographic) variation in the frequency of tetrahydrobiopterin deficiencies indicating the highest incidence in Saudi Arabia, probably a consequence of the high consanguinity rate.
Proper citation: International Database of Tetrahydrobiopterin Deficiencies (RRID:SCR_008171) Copy
A multidisciplinary project focused on the process leading to epilepsy, epileptogenesis, in adults. Their main hypothesis is that there are combinations of various causes, acting in parallel and/or in succession, that lead to epileptogenesis and development of seizures. Their central premise and vision is that a combinatorial approach is necessary to identify appropriate biomarkers and develop effective antiepileptogenic therapeutics. The project will focus on: * identifying novel biomarkers and their combinations for epileptogenesis after potentially epileptogenic brain insults in clinically relevant animal models, such as traumatic brain injury (TBI) and status epilepticus (SE); * exploring multiple basic mechanisms of epileptogenesis and their mutual interactions; * and translating these findings towards the clinic by validating biomarkers in human samples accessible to the consortium.
Proper citation: EpiTarget (RRID:SCR_003771) Copy
A research center focused on cellular medicine, where the basic research focuses and works on relevant clinical matters and fosters economic development. The center manages the research of the Bellvitge University Hospital, the Institut Catal�� d''Oncologia (Catalan Institute of Oncology) and the University of Barcelona. It is one of the first five Spanish research centers accredited as health research institute by the Instituto de Salud Carlos III (Health Institute Carlos III).
Proper citation: Bellvitge Biomedical Research Institute (RRID:SCR_003917) Copy
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 6, 2023. A clinical spinal cord injury network that provides a database of clinical assessment data from spinal cord injured patients. The EMSCI assessment scheme currently consists of the so called core sets: neurological (ISNCSCI), functional (10MWT, 6MWT, TUG, WISCI2) measurements and independence measures (SCIM3). Additional assessments are: neurophysiology (MEP, SSEP, NCV), pain, hand function and an urodynamics.
Proper citation: European Multicenter Study about Spinal Cord Injury (RRID:SCR_003720) Copy
Center dedicated to understanding and treatment of neurological diseases by creating and using imaging methods to study human nervous system. Dedicated to research imaging of human brain. Brain structure is imaged using anatomical Magnetic Resonance Imaging (aMRI) while brain physiology is imaged using Positron Emission Tomography (PET), Magnetic Resonance Spectroscopy (MRS), functional MRI (fMRI) and magnetoencephalography (MEG). BIC maintains linkages with clinical, clinical research and basic research communities within Montreal Neurological Institute (MNI), McGill University and has collaborations across Quebec, Canada, USA and internationally.
Proper citation: McConnell Brain Imaging Center (RRID:SCR_008364) Copy
http://www.nihclinicalcollection.com
A plated array of approximately 450 small molecules that have a history of use in human clinical trials. The collection was assembled by the National Institutes of Health (NIH) through the Molecular Libraries Roadmap Initiative as part of its mission to enable the use of compound screens in biomedical research. Similar collections of FDA approved drugs have proven to be rich sources of undiscovered bioactivity and therapeutic potential. The clinically tested compounds in the NCC are highly drug-like with known safety profiles. These compounds can provide excellent starting points for medicinal chemistry optimization and, for high-affinity targets, may even be appropriate for direct human use in new disease areas.
Proper citation: NIH Clinical Collection (RRID:SCR_007349) Copy
http://www.gtec.at/Products/Software/g.BSanalyze-Specs-Features
An interactive environment for multimodal biosignal data processing and analysis in the fields of clinical research and life sciences. It is the most comprehensive package to analyze non-invasive and invasive brain-, heart- and muscle-functions and dysfunctions. It includes many functions such as support vector machines, event-related ECG, support for P300 and SSVEP/SSSEP BCIs, zero class detection for BCIs, compressed spectral array, minimum energy, and more! g.BSanalyze consists of a base version for data import, visualization, transformation and pre-processing and has several dedicated toolboxes. The package comes with many sample biosignal data-sets, including P300, SSVEP, motor imagery, CSP BCIs, Tilt-Table, EPs, multi-unit activity, CFM, and ERD/ERS.
Proper citation: g.BSanalyze (RRID:SCR_009625) Copy
http://www.swanrepository.com/
The SWAN Repository is the biologic specimen bank of the Study of Women''s Health Across the Nation (SWAN). SWAN is a National Institutes of Health funded, multi-site, longitudinal study of the natural history of the midlife including the menopausal transition. The overall goal of SWAN is to describe the chronology of the biological and psychosocial characteristics that occur during midlife and the menopausal transition. In addition, SWAN is describing the effect of the transition and its associated characteristics on subsequent health and risk factors for age related chronic diseases. SWAN was designed to collect and analyze information on demographics, health and social characteristics, reproductive history, pre-existing illness, physical activity, and health practices of mid-life women in multi-ethnic, community-based samples; elucidate factors that differentiate symptomatic from asymptomatic women during the menopausal transition; identify and utilize appropriate markers of the aging of the ovarian-hypothalamo-pituitary axis and relate these markers to alterations in menstrual cycle characteristics as women approach and traverse the menopause; and explain factors that differentiate women most susceptible to long-term pathophysiological consequences of ovarian hormone deficiency from those who are protected. The biological specimen bank can also be linked by identification number (not by participant name) to data collected in the Core SWAN protocol. The specimen bank can also be linked with data from the Daily Hormone Study as well as menstrual calendars. Types of data include: epidemiological data, psychosocial data, physical measures, as well as data from assays (endocrine and cardiovascular information). SWAN has seven clinical study sites located in six states, two in California, and one each in Chicago, Boston, Detroit area, northern New Jersey and Pittsburgh. The SWAN cohort was recruited in 1996/7 and consists of 3302 African American, Caucasian, Chinese American, Hispanic and Japanese American women. Cohort members complete an annual clinic visit. The Core Repository includes over 1.8 million samples from the first 11 years of specimen collection. This includes samples from annual visits and samples from the Daily Hormone Sub-study (DHS). During an Annual visit, participants provide materials for up to 24-28 aliquots to be incorporated into the Repository. During a DHS visit, a participant provides 6 serum samples and between ~30-50 urine samples depending upon the length of her menstrual cycle. DHS participants (887) provide urine samples collected throughout one menstrual cycle each year. A typical DHS collection consists of a blood draw plus collection of 10 ml of urine daily throughout the month-long menstrual cycle, up to 50 days. DHS Repository samples consist of 6 serum samples and 30 5 ml urine samples. Specimen collection occurs from the time of menstrual bleed to the subsequent menstrual bleed or up to 50 days, whichever come first. The current DHS collection consists of more than 200,000 specimens stored in 5 ml vials. The SWAN DNA Repository currently contains extracted diluted DNA from 1538 SWAN participants. B-lymphocytes were transformed with Epstein Barr virus, and the resulting transformed b-cells aliquoted. Information about using these transformed cells for genomic or proteomic studies is available. DNA has been extracted from one aliquot (per woman) of the immortalized cells using the Puregene system. There was an average DNA yield of 217.0 mg/mL and a A260/A280 average ratio of 1.86. This DNA, in turn, has been aliquoted into 20ng/1 ml units for release by the DNA Repository. Samples are free of personal identifiers and collected under consents that allow a broad range of activities related to women''s health. All of these samples are available to researchers who wish to study the midlife and menopausal transition. Scientists who use these specimens can also request data collected during a participant''s annual visit including medical and health history, psychosocial measures, biological measures and anthropometry.
Proper citation: Study of Womens Health Across the Nation (SWAN) Repository (RRID:SCR_008810) Copy
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860449/
Collection of far reaching initiatives designed to transform research capabilities and improve translation of research into practice. Program consists of three major themes: new pathways to discovery, research teams of future, and reengineering clinical research enterprise.
Proper citation: NIH Roadmap (RRID:SCR_011465) Copy
http://cph.georgetown.edu/taiwan.html
Data sets of information regarding the health and well-being of older persons in Taiwan (from 2000 and 2006), in particular the relationship between life challenges and mental and physical health, the impact of social environment on the health and well-being of the elderly, and biological markers of health and stress. The study collected self-reports of physical, psychological, and social well-being, plus extensive clinical data based on medical examinations and laboratory analyses. Examination of health outcomes included chronic illnesses, functional status, psychological well-being, and cognitive function. Questions regarding life challenges focused on perceived stress, economic difficulties, security and safety, and the consequences of a major earthquake. Biological markers were used to identify cardiovascular risk factors, metabolic process measures, immune-system activity, the hypothalamic-pituitary adrenal axis, and sympathetic nervous system activity. The study design consists of face-to-face interviews with participants drawn from a random sub-sample of participants from 27 PSUs from the 1999 Survey of Health and Living Status of the Middle Aged and Elderly in Taiwan. Hospital visits and blood and urine specimens also were collected. A second wave of SEBAS was conducted in 2006 using a similar protocol to SEBAS 2000, but with the addition of performance assessments conducted by the interviewers at the end of the home interview. * Dates of Study: -2000, 2006 * Study Features: Longitudinal, International, Anthropometric Measures * Sample Size: 27 PSUs
Proper citation: Social Environment and Biomarkers of Aging Study in Taiwan (RRID:SCR_003704) Copy
Data sets resulting from glaucoma research including visual fields, various imaging modalities and other data from both glaucomatous and normal subjects. The Longitudinal Glaucomatous Visual Fields data set contains IOP (Intraocular pressure) measurements and 24-2 Full Threshold visual fields obtained with a Humphrey Field Analyzer (Zeiss). Data of both eyes of 139 patients over a mean period of over 9 years is included, with on average more than 17 fields per eye. Local threshold and total deviation values are included.
Proper citation: Open Rotterdam Glaucoma Imaging Data Sets (RRID:SCR_003540) Copy
A commercial software for computerized physician order entry and electronic health record system (EHR) enhancements for data analysis, along with other software products and services.
Proper citation: Allscripts (RRID:SCR_008662) Copy
http://www.hgvs.org/dblist/dblist.html
A list of various databases freely available to the public, including several mutation and variation resources, such as education resources for teachers students provided by the Human Genome Variation Society. Databases listed include: * Locus Specific Mutation Databases * Disease Centered Central Mutation Databases * Central Mutation and SNP Databases * National and Ethnic Mutation Databases * Mitochondrial Mutation Databases * Chromosomal Variation Databases * Other Mutation Databases ( i.e. your round holes don''''t fit our square pegs) * Clinical and Patient Aspects Databases * Non Human Mutation Databases * Artificial Mutations Only * Other Related Databases * Education Resources for Teachers and Students
Proper citation: Human Genome Variation Society: Databases and Other Tools (RRID:SCR_006876) Copy
A commercial software developer.
Proper citation: Velos (RRID:SCR_008408) Copy
http://www.feinberg.northwestern.edu/research/cores/units/clin-pharm.html
Core provides quantitative mass spectrometry based support for in vitro studies and both preclinical and clinical studies of variety of small molecules, including cancer chemotherapeutic agents, analgesics, and antidepressants. Expertise includes optimizing design, conduct, analysis, interpretation, and reportage of pharmacokinetic studies. Helps with biological sample preparation, quantitative mass spectrometric drug concentration measurement, and drug concentration versus time data modeling. Small molecule concentrations in plasma and other body fluids are measured using Sciex 6500 QTrap with UPLC and nano LC or an Agilent HPLC system linked to Applied Biosystems API 3000 triple quadrupole mass spectrometer after sample preparation by, for example, solid-phase extraction. Drug concentration versus time relationships are fitted to various compartmental pharmacokinetic models using commercially available and specialized software.
Proper citation: Northwestern University Mary Beth Donnelley Clinical Pharmacology Core Facility (RRID:SCR_017768) Copy
Facility serves as specialized laboratory performing correlative assays for cancer-based clinical trials. Participates in project development to assist in assay selection and optimization prior to study initiation. Offers pick-up service for specimens from patients at U of C Hospital or outpatient clinics, and process samples as indicated for assays being performed. For some studies, isolation and freezing of peripheral blood lymphocytes for analysis at later date is performed, while for others immediate staining of whole blood for specific cell surface markers of interest is carried out. Prepares clinical grade products, such as peptide vaccines, for administration into patients.Assays performed include ELISA, ELISPOT, tetramer binding assays, detection of cell surface markers by flow cytometry, and biochemical assays such as Western Blots, RNA extraction from tumor biopsies and either real time RT-PCR for specific transcripts or preparation of samples for gene expression profiling. Facility is equipped with MACSQuant Flow Cytometer, ELISA microplate reader, ELISPOT reader, PCR thermocyclers, CO2 incubators, biosafety cabinets, centrifuges, and equipment for Western blot analysis. Performs assays on human samples but consideration will be given to expanding these services to mouse-model systems.
Proper citation: University of Chicago Human Immunologic Monitoring Core Facility (RRID:SCR_017916) 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.garvan.org.au/research/capabilities/molecular-genetics
Core facility for high throughput services covering the areas of Capillary Sequencing, Mouse Genotyping, SNP Genotyping, Clinical Diagnostic Sequencing, Cell Line Identification, Gene Expression Analysis and DNA/RNA extraction.
Proper citation: Garvan Institute of Medical Research Molecular Genetics Core Facility (RRID:SCR_017849) Copy
A workflow-oriented environment focused on biomedical image computing and simulation. The open source framework is extensible through plug-ins and is focused on building research and clinical software prototypes. Gimias has been used to develop clinical prototypes in the fields of cardiac imaging and simulation, angiography imaging and simulation, and neurology.
Proper citation: GIMIAS (RRID:SCR_009545) Copy
https://github.com/rbutleriii/Clinotator
Software that performs clinical interpretation of ambiguous ClinVar annotations. This software takes batches of variants as input and queries NCBI eutilities to generate scoring metrics.
Proper citation: Clinotator (RRID:SCR_016054) Copy
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