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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
ISCA ConsortiumResource, database, international standard specification, standard specification, narrative resource, portal, community building portal, data or information resourceA rapidly growing group of clinical cytogenetics and molecular genetics laboratories committed to improving quality of patient care related to clinical genetic testing using new molecular cytogenetic technologies including array comparative genomic hybridization (aCGH) and quantitative SNP analysis by microarrays or bead chip technology. They improve clinical care by providing a large publicly available database and forum where clinicians and researchers can share knowledge to expedite the understanding of copy number variation (CNV) in an abnormal population. The ISCA database contains whole genome array data from a subset of the ISCA Consortium clinical diagnostic laboratories. Array analysis was carried out on individuals with phenotypes including intellectual disability, autism, and developmental delay. Efforts of the Consortium include: # Clinical Utility: The ISCA Consortium has made recommendations regarding the appropriate clinical indications for cytogenetic array testing (Miller et al. AJHG 2010, PMID: 20466091). Currently, discussions are focused on pediatric applications for children with unexplained developmental delay, intellectual disability, autism and other developmental disabilities. A separate committee has been developed to address appropriate cancer genetic applications (http://www.urmc.rochester.edu/ccmc/). # Evidence-based standards for cytogenomic array design: The Consortium will develop recommendations for standards for the design, resolution and content of cytogenomic arrays using an evidence-based process and an international panel of experts in clinical genetics, clinical laboratory genetics (cytogenetics and molecular genetics), genomics and bioinformatics. This design is intended to be platform and vendor-neutral (common denominator is genome sequence coordinates), and is a dynamic process with input from the broader genetics community and evidence-based review by the expert panel (which will evolve into a Standing Committee with international representation). # Public Database for clinical and research community: It is essential that publicly available databases be created and maintained for cytogenetic array data generated in clinical testing laboratories. The ISCA data will be held in dbGaP and dbVar at NCBI/NIH and curated by a committee of clinical genetics laboratory experts. The very high quality of copy number data (i.e., deletions and duplications) coming from clinical laboratories combined with expert curation will produce an invaluable resource to the clinical and research communities. # Standards for interpretation of cytogenetic array results: Using the ISCA Database, along with other genomic and genetics databases, the Consortium will develop recommendations for the interpretation and reporting of pathogenic vs. benign copy number changes as well as imbalances of unknown clinical significance.clinical, cytogenetics, molecular genetics, genetic testing, molecular cytogenetic technology, array comparative genomic hybridization, quantitative snp analysis, microarray, bead chip, genome, array, phenotype, copy number, deletion, duplication, copy number variationSCR_006168(ISCA Consortium, RRID:SCR_006168)Intellectual disability, Developmental delay, Etc., Autismrelated to: Database of Genomic Variants Archive, NCBI database of Genotypes and Phenotypes, UCSC Genome BrowserLast checked downnlx_151670
NIDDK Central RepositoryResource, resource, database, biomaterial supply resource, biospecimen repository, production service resource, biomaterial manufacture, service resource, material service resource, storage service resource, data repository, material resource, material storage repository, data or information resourceData, biosample, and genetic repositories to increase impact of current and previously funded NIDDKstudies, making data and biospecimens available to broader scientific community. Most NIDDK-funded studies are collecting genetic biospecimens and carrying out high-throughput genotyping making it possible for other scientists to use Repository resources to match genotypes to phenotypes and to perform informative genetic analyses. There are three Repositories: * Biosample Repository - Fisher BioServices, Inc (14665 Rothgeb Drive, Rockville, MD 20850) Receives biosamples collected in many different studies, stores the samples under optimal conditions, and distributes them to qualified investigators. * Genetics Repository - Rutgers, The State University of New Jersey (Rutgers Lab)(604 Allison Road, Nelson Labs C112, Piscataway, NJ 08854) Receives blood samples collected in many different studies, and processes them to create immortalized cell lines, and DNA samples. They also cryopreserve blood cells, extract DNA from blood samples, store samples of DNA under optimal conditions, and distribute DNA samples to qualified investigators. * Central Data Repository (CDR) - RTI International (3040 Cornwallis Rd, Research Triangle Park, NC 27709) Receives, archives, maintains and distributes databases or parts of databases from studies. In addition, they analyze stored data in response to inquiries, assist ongoing studies in preparing data for eventual archiving, coordinate cross-referencing between the three Repositories, and maintain the Central Repository website. The NIDDKCentral Repositories have four major components: * An archive of clinical data and documentation from NIDDK-sponsored studies * A collection of biospecimens and an associated database that identifies specimens collected from ongoing and completed studies funded by NIDDKand links them to the associated phenotypic data * A web portal that makes study-specific information within the Repository easily viewable and that accepts electronic requests for biospecimens and data * A collection of genotyping data from GWAS and sequencing studies housed at the National Center for Biotechnology Information's (NCBI) database of Genotypes and Phenotypes (dbGaP)clinical supply resource, data, clinical, sample sharing, genotyping, genotype, phenotype, genetic analysis, data sharing, genetics, serum, plasma, stool, urine, dna, red blood cell, buffy coat, tissue, immortalized cell line, cell line, data set, digestive organ, kidney, diabetes, kidney disease, digestive disease, genome-wide association study, sequencingSCR_006542(NIDDK Central Repository, RRID:SCR_006542)RTI International NIDDKrelated to: NCBI database of Genotypes and Phenotypes, Peginterferon and Ribavirin for Pediatric Patients with Chronic Hepatitis C , Chronic Renal Insufficiency Cohort Study, used by: NIDDK Information Network, NIF Data Federation, recommended by: National Library of Medicine, BRAIN Initiative, listed by: One Mind Biospecimen Bank Listing, re3data.org, Biospecimens/Biorepositories: Rare Disease-HUB (RD-HUB), NIDDK Information Network, lists: HEALTHY study , Nonalcoholic Steatohepatitis Clinical Research Network , HALT-C Trial , Type 1 Diabetes Genetics ConsortiumReferences (3)Last checked upnlx_152673https://www.niddkrepository.org
eMERGE Network: electronic Medical Records and GenomicsResource, topical portal, portal, data or information resourceA national consortium formed to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. The consortium is composed of seven member sites exploring the ability and feasibility of using EMR systems to investigate gene-disease relationships. Themes of bioinformatics, genomic medicine, privacy and community engagement are of particular relevance to eMERGE. The consortium uses data from the EMR clinical systems that represent actual health care events and focuses on ethical issues such as privacy, confidentiality, and interactions with the broader community.human, clinical, dna, alzheimer's disease, genome, genomics, gene, genetic, nervous system disease, nucleotide polymorphism, phenotype, bioinformatics, genomic medicine, privacy, community engagement, emr, electronic medical recordSCR_007428(eMERGE Network: electronic Medical Records and Genomics, RRID:SCR_007428)Vanderbilt University; Tennessee; USA AgingNHGRI, NIGMSrelated to: PheKB, NCBI database of Genotypes and Phenotypes, PheWAS CatalogLast checked upnif-0000-00539
Framingham Heart StudyResource, disease-related portal, topical portal, research forum portal, biomaterial supply resource, data set, portal, material resource, data or information resourceA longitudinal, epidemiologic study to identify the common risk factors or characteristics that contribute to cardiovascular disease by following its development over a long period of time in a large group of participants who had not yet developed overt symptoms or suffered a heart attack or stroke. Since that time the FHS has studied three generations of participants resulting in biological specimens and data from nearly 15,000 participants. Since 1994, two groups from minority populations, including related individuals have been added to the FHS. FHS welcomes proposals from outside investigators for data and biospecimens. The researchers recruited 5,209 men and women between the ages of 30 and 62 from the town of Framingham, Massachusetts, and began the first round of extensive physical examinations and lifestyle interviews that they would later analyze for common patterns related to CVD development. Since 1948, the subjects have continued to return to the study every two years for a detailed medical history, physical examination, and laboratory tests, and in 1971, the Study enrolled a second generation - 5,124 of the original participants'''' adult children and their spouses - to participate in similar examinations. In 1994, the need to establish a new study reflecting a more diverse community of Framingham was recognized, and the first Omni cohort of the Framingham Heart Study was enrolled. In April 2002 the Study entered a new phase, the enrollment of a third generation of participants, the grandchildren of the Original Cohort. In 2003, a second group of Omni participants was enrolled. Over the years, careful monitoring of the Framingham Study population has led to the identification of major CVD risk factors, as well as valuable information on the effects of these factors such as blood pressure, blood triglyceride and cholesterol levels, age, gender, and psychosocial issues. Risk factors for other physiological conditions such as dementia have been and continue to be investigated. In addition, the relationships between physical traits and genetic patterns are being studied. FHS clinical and research data is stored in the dbGaP and NHLBI Repository repositories and may be accessed by application. Please check the following repositories before applying for data through FHS. Investigators seeking data that is not available through dbGaP or BioLINCC or seeking biological specimens may submit a proposal through the FHS web-based research application. The FHS data repository may be accessed through this FHS website, under the For Researchers link, then Description of Data, in order to determine if and how the desired data is stored. Proposals may involve the use of existing data, the collection of new data, either directly from participants or from previously collected samples, images, or other materials (e.g., medical records). The FHS Repository also has biological specimens available for genetic and non-genetic research proposals. Specimens include urine, blood and blood products, as well as DNA.clinical study, longitudinal study, heart, cardiac, adult human, male, female, risk factor, blood pressure, blood triglyceride, cholesterol level, age, gender, psychosocial, dementia, physical trait, genetic trait, minority, clinical, genotype, phenotype, urine, blood, blood product, dnaSCR_008963(Framingham Heart Study, RRID:SCR_008963)Boston University; Massachusetts; USA Cardiovascular disease, Normal, AgingNHLBI Division of Prevention and Population Sciencesrelated to: NCBI database of Genotypes and Phenotypes, Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC), listed by: One Mind Biospecimen Bank ListingLast checked upnlx_151991
Chronic Renal Insufficiency Cohort Study Resource, disease-related portal, topical portal, resource, research forum portal, biomaterial supply resource, portal, material resource, data or information resourceA prospective observational national cohort study poised to make fundamental insights into the epidemiology, management, and outcomes of chronic kidney disease (CKD) in adults with intended long-term follow up. The major goals of the CRIC Study are to answer two important questions: * Why does kidney disease get worse in some people, but not in others? * Why do persons with kidney disease commonly experience heart disease and stroke? The CRIC Scientific and Data Coordinating Center at Penn receives data and provides ongoing support for a number of Ancillary Studies approved by the CRIC Cohort utilizing both data collected about CRIC study participants as well as their biological samples. The CRIC Study has enrolled over 3900 men and women with CKD from 13 recruitment sites throughout the country. Following this group of individuals over the past 10 years has contributed to the knowledge of kidney disease, its treatment, and preventing its complications. The NIDDKwill be extending the study for an additional 5 years, through 2018. An extensive set of study data is collected from CRIC Study participants. With varying frequency, data are collected in the domains of medical history, physical measures, psychometrics and behaviors, biomarkers, genomics/metabolomics, as well as renal, cardiovascular and other outcomes. Measurements include creatinine clearance and iothalamate measured glomerular filtration rate. Cardiovascular measures include blood pressure, ECG, ABI, ECHO, and EBCT. Clinical CV outcomes include MI, ischemic heart disease-related death, acute coronary syndromes, congestive heart failure, cerebrovascular disease, peripheral vascular disease, and composite outcomes. The CRIC Study has delivered in excess of 150,000 bio-samples and a dataset characterizing all 3939 CRIC participants at the time of study entry to the NIDDKnational repository. The CRIC Study will also be delivering a dataset to NCBI''''s Database for Genotypes and Phenotypes.clinical, epidemiology, management, outcome, adult human, medical history, physical measure, psychometrics, behavior, renal, biomarker, genomics, gwas, kidney, data sharing, bibliography, observational cohort study, male, female, cardiovascular, heart, kidney, risk factor, metabolomicsSCR_009016( Chronic Renal Insufficiency Cohort Study , RRID:SCR_009016)University of Pennsylvania Perelman School of Medicine; Pennsylvania; USA Chronic kidney disease, Cardiovascular diseaseNIDDKrelated to: NCBI database of Genotypes and Phenotypes, NIDDK Central Repository, AASK Clinical Trial and Cohort Study, listed by: One Mind Biospecimen Bank Listing, NIDDK Information Network, NIDDK Research Resources, Diabetes Research Centers, submitted by: NIDDK Information NetworkLast checked upnlx_152758
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