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http://chromium.lovd.nl/LOVD2/home.php?select_db=CDKN2A

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. The CDKN2A Database presents the germline and somatic variants of the CDKN2A tumor suppressor gene recorded in human disease through June 2003, annotated with evolutionary, structural, and functional information, in a format that allows the user to either download it or manipulate it for their purposes online. The goal is to provide a database that can be used as a resource by researchers and geneticists and that aids in the interpretation of CDKN2A missense variants. Most online mutation databases present flat files that cannot be manipulated, are often incomplete, and have varying degrees of annotation that may or may not help to interpret the data. They hope to use CDKN2A as a prototype for integrating computational and laboratory data to help interpret variants in other cancer-related genes and other single nucleotide polymorphisms (SNPs) found throughout the genome. Another goal of the lab is to interpret the functional and disease significance of missense variants in cancer susceptibility genes. Eventually, these results will be relevant to the interpretation of single nucleotide polymorphisms (SNPs) in general. The CDKN2A locus is a valuable model for assessing relationships among variation, structure, function, and disease because: Variants of this gene are associated with hereditary cancer: Familial Melanoma (and related syndromes); somatic alterations play a role in carcinogenesis; allelic variants occur whose functional consequences are unknown; reliable functional assays exist; and crystal structure is known. All variants in the database are recorded according to the nomenclature guidelines as outlined by the Human Genome Variation Society. This database is currently designed for research purposes only and is not yet recommended as a clinical resource. Many of the mutations reported here have not been tested for disease association and may represent normal, non-disease causing polymorphisms.

Proper citation: CDKN2A Database (RRID:SCR_008179) Copy   

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http://jbirc.jbic.or.jp/hinv/ppi/

The PPI view displays H-InvDB human protein-protein interaction (PPI) information. It is constructed by assigning interaction data to H-InvDB proteins which were originally predicted from transcriptional products generated by the H-Invitational project. The PPI view is now providing 32,198 human PPIs comprised of 9,268 H-InvDB proteins. H-Invitational Database (H-InvDB) is an integrated database of human genes and transcripts. By extensive analyses of all human transcripts, we provide curated annotations of human genes and transcripts that include gene structures, alternative splicing isoforms, non-coding functional RNAs, protein functions, functional domains, sub-cellular localizations, metabolic pathways, protein 3D structure, genetic polymorphisms (SNPs, indels and microsatellite repeats) , relation with diseases, gene expression profiling, molecular evolutionary features, protein-protein interactions (PPIs) and gene families/groups. Sponsors: This research is financially supported by the Ministry of Economy, Trade and Industry of Japan (METI), the Ministry of Education, Culture, Sports, Science and Technology of Japan (MEXT) and the Japan Biological Informatics Consortium (JBIC). Also, this work is partly supported by the Research Grant for the RIKEN Genome Exploration Research Project from MEXT to Y.H. and the Grant for the RIKEN Frontier Research System, Functional RNA research program.

Proper citation: H-Invitational Database: Protein-Protein Interaction Viewer (RRID:SCR_008054) Copy   

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http://www.cephb.fr/

The Centre d''Etude du Polymorphisme Humain (CEPH) is a research laboratory, the main activities of which are the setting up, storage, processing and distribution of DNA collections for the identification of genetic factors conferring susceptibility to complex disorders. These collections are established in partnership and full collaboration with external French or international research groups. The Foundation currently hosts the CEPH reference panel, the HGDP panel (Human genome Diversity Cell Line Panel) and several collections amounting mid-2008 to more than 250 000 samples. The goal of CEPH is to understand complex multifactorial disorders necessitates the establishment of structures facilitating access to large and integrated collection of individuals, characterized by a large number of variables emanating from different technologies and platforms. To achieve this goal, CEPH facilitates the setting up of integrated analyses combining clinical, genetic and environmental data, for the identification of susceptibility factors to complex multifactorial disorders Additionally, CEHP allows the reception, storage, processing and distribution of biological sample collections. At the same time, it promotes and participates in the design and setting up of genetic studies: - in partnership and full collaboration with external research groups - giving access to a large number of variables - in a sufficient number of subjects - allowing large scale integrated analyses

Proper citation: Centre dEtude du Polymorphisme Humain (RRID:SCR_008026) Copy   

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http://www.acpfg.com.au/

At the Australian Centre for Plant Functional Genomics (ACPFG), scientists are improving wheat and barley''s tolerance to environmental stresses such as drought, heat, salinity and nutrient toxicities. These stresses known as abiotic stresses, are a major cause of yield and quality loss throughout the world and cause significant problems for cereal growers. These scientists are developing the technologies and resources needed to produce new cereal varieties that allow sustainable farming to generate economic, social and environmental benefits to Australia. ACPFG research is helping to ensure Australia maintains its competitive position in cereal production. - Identify the genetic mechanisms that control tolerance to specific stresses and compare these with those controlling broad range tolerance to abiotic stresses - Use genome-wide analyses to define key cellular processes that enable adapted plants to withstand abiotic stress, and to apply that understanding to the genetic improvement of crops such as wheat and barley - Unravel regulatory networks that control plant growth under abiotic stress - Identify ways of manipulating these networks, through existing genetic diversity or through functional genomics technologies, to deliver tangible industry outcomes, namely cereal varieties better tailored to hostile environments

Proper citation: Australian Center For Plant Functional Genomics PTY LTD (RRID:SCR_008383) Copy   

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http://www.cshl.edu/

Non profit, private research and education institution that performs molecular and genetic research used to generate methods for better diagnostics and treatments for cancer and neurological diseases. Research of cancer causing genes and their respective signaling pathways, mutations and structural variations of the human genome that could cause neurodevelopmental and neurodegenerative illnesses such as autism, schizophrenia, and Alzheimer's and Parkinson's diseases and also research in plant genetics and quantitative biology.

Proper citation: Cold Spring Harbor Laboratory (RRID:SCR_008326) Copy   

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http://www.ohsu.edu/xd/research/centers-institutes/onprc/

Center that aims to develop biomedical technologies using nonhuman primate (NHP) models. Its goal is to uncover the root causes of various disease and disorders, unlock secrets of the brain, and unleash new methods of diagnostics and treatment.

Proper citation: Oregon National Primate Research Center (RRID:SCR_008291) Copy   

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http://www.illumina.com/

American company incorporated that develops, manufactures and markets integrated systems for the analysis of genetic variation and biological function. Provides a line of products and services that serve the sequencing, genotyping and gene expression and proteomics markets. Its headquarters are located in San Diego, California.

Proper citation: Illumina (RRID:SCR_010233) Copy   

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http://www2.le.ac.uk/

Public research university based in Leicester, England. Famous for the discovery of genetic fingerprinting and contributing to the discovery and identification of the remains of King Richard III.

Proper citation: University of Leicester; Leicester; United Kingdom (RRID:SCR_004900) Copy   

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https://github.com/transmart

tranSMART is a knowledge management platform that enables scientists to develop and refine research hypotheses by investigating correlations between genetic and phenotypic data, and assessing their analytical results in the context of published literature and other work. tranSMART is licensed through GPL 3. The integration, normalization, and alignment of data in tranSMART permits users to explore data very efficiently to formulate new research strategies. Some of tranSMART''s specific applications include: * Revalidating previous hypotheses * Testing and refining novel hypotheses * Conducting cross-study meta-analysis * Searching across multiple data sources to find associations of concepts, such as a gene''s involvement in biological processes or experimental results * Comparing biological processes and pathways among multiple data sets from related diseases or even across multiple therapeutic areas Data Repository The tranSMART Data Repository combines a data warehouse with access to federated sources of open and commercial databases. tranSMART accommodates: * Phenotypic data, such as demographics, clinical observations, clinical trial outcomes, and adverse events * High content biomarker data, such as gene expression, genotyping, pharmacokinetic and pharmaco-dynamics markers, metabolomics data, and proteomics data * Unstructured text-data, such as published journal articles, conference abstracts and proceedings, and internal studies and white papers * Reference data from sources such as MeSH, UMLS, Entrez, GeneGo, Ingenuity, etc. * Metadata providing context about datasets, allowing users to assess the relevance of results delivered by tranSMART Data in tranSMART is aligned to allow identification and analysis of associations between phenotypic and biomarker data, and it is normalized to conform with CDISC and other standards to facilitate search and analysis across different data sources. tranSMART also enables investigators to search published literature and other text sources to evaluate their analysis in the context of the broader universe of reported research. External data can also be integrated into the tranSMART data repository, either from open data projects like GEO, EBI Array Express, GCOD, or GO, or from commercially available data sources. Making data accessible in tranSMART enables organizations to leverage investments in manual curation, development costs of automated ETL tools, or commercial subscription fees across multiple research groups. Dataset Explorer tranSMART''s Dataset Explorer provides flexible, powerful search and analysis capabilities. The core of the Dataset Explorer integrates and extends the open source i2b2 application, Lucene text indexing, and GenePattern analytical tools. Connections to other open source and commercial analytical tools such as Galaxy, Integrative Genomics Viewer, Plink, Pathway Studio, GeneGo, Spotfire, R, and SAS can be established to expand tranSMART''s capabilities. tranSMART''s design allows organizations flexibility in selecting analytical tools accessible through the Dataset Explorer, and provides file export capabilities to enable researchers to use tools not accessible in the tranSMART portal.

Proper citation: tranSMART (RRID:SCR_005586) Copy   

•   Source: SciCrunch Registry

http://www.gene.com/

A biotechnology corporation that uses human genetic information to discover, develop, manufacture and commercialize medicines to treat patients with serious or life-threatening medical conditions.

Proper citation: Genentech (RRID:SCR_003997) Copy   

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http://ki.se/en/meb/twingene-and-genomeeutwin

In collaboration with GenomeEUtwin, the TwinGene project investigates the importance of quantitative trait loci and environmental factors for cardiovascular disease. It is well known that genetic factors are of considerable importance for some familial lipid syndromes and that Type A Behavior pattern and increased lipid levels infer increased risk for cardiovascular disease. It is furthermore known that genetic factors are of importance levels of blood lipid biomarkers. The interplay of genetic and environmental effects for these risk factors in a normal population is less well understood and virtually unknown for the elderly. In the TwinGene project twins born before 1958 are contacted to participate. Health and medication data are collected from self-reported questionnaires, and blood sampling material is mailed to the subject who then contacts a local health care center for blood sampling and a health check-up. In the simple health check-up, height, weight, circumference of waist and hip, and blood pressure are measured. Blood is sampled for DNA extraction, serum collection and clinical chemistry tests of C-reactive protein, total cholesterol, triglycerides, HDL and LDL cholesterol, apolipo��protein A1 and B, glucose and HbA1C. The TwinGene cohort contains more than 10000 of the expected final number of 16000 individuals. Molecular genetic techniques are being used to identify Quantitative Trait Loci (QTLs) for cardiovascular disease and biomarkers in the TwinGene participants. Genome-wide linkage and association studies are ongoing. DZ twins have been genome-scanned with 1000 STS markers and a subset of 300 MZ twins have been genome-scanned with Illumina 317K SNP platform. Association of positional candidate SNPs arising from these genomscans are planned. The TwinGene project is associated with the large European collaboration denoted GenomEUtwin (www.genomeutwin.org, see below) which since 2002 has aimed at gathering genetic data on twins in Europe and setting up the infrastructure needed to enable pooling of data and joint analyses. It has been the funding source for obtaining the genome scan data. Types of samples: * EDTA whole blood * DNA * Serum Number of sample donors: 12 044 (sample collection completed)

Proper citation: KI Biobank - TwinGene (RRID:SCR_006006) Copy   

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http://ki.se/forskning/kol-vaxande-epidemi-i-rokningens-spar

Aims to explore heritability for clinically confirmed chronic obstructive lung disease (COPD), estimate the heritability for lung function and investigate interactions between smoking and genes including the genetic effect on smoking habits. Study participants have been recruited from the Swedish Twin Registry. Types of samples * EDTA whole blood * DNA * Plasma * Serum Number of sample donors: 386 (sample collection completed)

Proper citation: KI Biobank - KOL (RRID:SCR_005782) Copy   

•   Source: SciCrunch Registry

http://www.cancerbiobank.org/

CCPRB (Cancer Control using Population-based Registries and Biobanks) is a Network of Excellence project within the sixth framework programme of the European Union. It is aiming at improved control of cancer by facilitating research linking biobanks and cancer registries. The project involves a systematic quality assurance and continuous development of standards and norms for human sample biobanks in Europe, as well as development of improved integrity-protection standards in the handling of sensitive information in connection with biobank-based research. The samples in the biobanks will be used in large-scale cancer research searching for genetic and infectious causes to cancer, in particular in the areas of breast and colorectal cancer and childhood leukemia. Project objectives: * Provide the study base for uniquely large population-based prospective studies on cancer * Define and implement a generally applicable European Quality Standard for Biobanking that will include improved data and specimen standardization, acquisition and analysis, reliable and standardized statistical analysis as well as improved management and co-ordination of European biobanks. * Define and promote the implementation of integrity-proof methods for biobank-based research involving well defined and secure third party code-keeping systems. * Enable large-scale, population-based research on: ** evaluation of cancer treatment and role of molecular markers in treatment selection ** use over-generation registry linkages applied to large biobank cohorts to identify and evaluate genetic predisposition associated with increased cancer risk as well as interactions with common environmental exposures. ** use over-generation registry linkages applied to large biobank cohorts to explore and evaluate intrauterine exposures associated with increased cancer risk ** exploit the power of large population cohorts for design of optimal strategies for cancer prevention and its evaluation. * Establish a Europe-wide network for spreading the awareness of i) the data, samples and knowledge generated European biobank-based research ii) possibilities for future biobank-based research and iii) the best practice quality standards for biobank-based research.

Proper citation: Cancer Control using Population-based Registries and Biobanks (RRID:SCR_004902) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29332&a=23686&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 22, 2016. The original aim of this study was to increase our understanding of the etiology of malignant lymphomas, especially in view of the increasing trend in incidence. Malignant lymphoma (including non-Hodgkin lymphoma, NHL, Hodgkin lymphoma, HL, and chronic lymphocytic leukemia, CLL) constitute a heterogeneous group of malignancies with regard to histology, molecular characteristics and clinical course. Etiological factors may also vary by lymphoma subtype. The incidence of NHL, the most common lymphoma group, has increased dramatically during the past decades in Sweden and in many other Western countries. The reasons for this increase as well as for the majority of all new cases is not well understood. Well established risk factors for lymphoma overall include hereditary and acquired disorders of strong immune dysfunction such as HIV/AIDS and organ transplantation, but they explain few new cases in the population. Approach: Population-based case-control study in Sweden and Denmark. The study includes in total 3740 patients and 3187 controls in both countries recruited during the period October 1999 to October 2002. Through a rapid case ascertainment system, the cases were identified shortly after diagnosis. The controls were randomly selected from national population registers and frequency-matched to the expected number of cases by sex and age group. Both cases and controls were interviewed by telephone based on a standardized questionnaire to obtain detailed information on potential risk factors for lymphoma such as medical history including infectious diseases, drug use and blood transfusions, socio-economic factors and life-style. Blood samples were also collected and stored as serum, plasma, DNA and live lymphocytes. In addition, written questionnaires about dietary habits or work exposures were sent out in Sweden. Tumor material from the cases was re-examined and uniformly classified according to the REAL classification. Status The data collection ended in 2002 and data analysis has been ongoing since then. We have primarily analyzed a range of environmental factors in relation risk of malignant lymphoma subgroups including sun exposure, body mass index, family history of hematopoietic cancer, allergy, autoimmune disorders and mononucleosis. We have also assessed specific genetic determinants in a subgroups of patients with follicular lymphoma and controls. Study results have so far been presented in 14 publications in peer-reviewed journals. In addition to new analyses on other environmental factors, we now also work to understand genetic susceptibility and gene-environmental interaction and risk of lymphoma. Also, prognostic studies have been initiated in collaboration with other research groups with regard to in CLL, HL and T-cell lymphoma.

Proper citation: SCALE - Scandinavian lymphoma etiology (RRID:SCR_006041) Copy   

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https://www.nugene.org/

Collects and stores genetic (DNA) samples along with associated healthcare information from patients of Northwestern-affiliated hospitals and clinics. This resource is available to scientists to conduct groundbreaking genetic research. The information and blood samples provided will be used by researchers to examine the role genes play in the development and treatment of common diseases. The NUgene Project seeks to increase the understanding of genetic mechanisms underlying common diseases, assist in the development of DNA-based technology for diagnosis and treatment of disease, and aid physicians and other healthcare providers in the application of genetics to the practice of medicine. NUgene participants are recruited throughout the Northwestern-affiliated healthcare community in order to create an ethnically and medically diverse population for research. Participants must be 18 years of age or older and receive their medical care from a Northwestern-affiliated provider, regardless of health status. Consenting individuals complete all aspects of enrollment in a single meeting with a research coordinator. The enrollment process includes the donation of a single sample of blood and the completion of a self-administered questionnaire. Participants also sign a consent form during this encounter. The NUgene Project is an interdisciplinary project that relies on the expertise of individuals working in a variety of fields, including science, medicine, clinical research, statistics, epidemiology, and computational biology. NUgene''s multidisciplinary approach has spurred collaborations within Northwestern-affiliated institutions and with other outside institutions. This collaboration of ideas is the future of genetics and genomic research., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: NUgene Project (RRID:SCR_007426) Copy   

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https://www.med.unc.edu/mmrrc/

Center that is a mouse cryoarchive and distribution center, which incorporates research goals that synergize with and extend the value of the resource. The goals of the UNC Chapel Hill center are to streamline and improve operating procedures, establish a comprehensive cryoarchive, develop and disseminate computational tools for mouse genotyping, and examine the effect of paternal age and epigenetics on mutation rate.

Proper citation: Mutant Mouse Resource and Research Center - University of North Carolina (RRID:SCR_016449) Copy   

•   Source: SciCrunch Registry

http://www.seattle.eric.research.va.gov/VETR/biospecimen_repository.asp

The Vietnam Era Twin (VET) Registry maintains a repository of biological specimens obtained from Registry members. The VET Registry Biospecimen Repository includes DNA, plasma, and serum samples obtained from selected VET Registry members. As the VET Registry is a national resource for studies investigating genetic and non-genetic influences on health and disease in middle age men, this enhances the value of the information collected from VET Registry members to the research community. The VET Registry has developed a general system of protocols for the collection and storage of biological specimens that assures confidentiality for all participants. The biological specimens currently in use are stored at the R&D Core Laboratory at the VA Puget Sound Health Care System (VAPSHCS) in Seattle, WA. The R&D Core Laboratory performs DNA extraction procedures and separates out DNA, plasma, and serum for testing and storage. It is important to note that Core Laboratory staff has absolutely no phenotypic (non-genetic) information about VET Registry members, as the lab is completely blinded to the identity, disease characteristics, and any other research data collected from VET Registry members. The Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) Core Laboratory is located at the VA Boston Health Care System in Boston, MA, and serves as the long-term storage site for the VET Registry Biospecimen Repository. Before a VET Registry member decides whether to participate in the Biospecimen Repository, the procedures, confidentiality safeguards, and potential risks are explained in great detail. To be able to accommodate the wishes of members, a so-called layered consent process is used which allows members to choose from several options with regard to how their biological specimen will be used in current or future research studies. Such options may include: 1) not having their samples used for any testing beyond the immediate goals of the study; 2) allowing for future testing of their samples restricted to the study for which they provided the sample; or 3) allowing unrestricted future research use of their samples. Members are informed that any future use of their samples would have to be approved by the VET Registry, in addition to an independent ethics committee that protects the rights and welfare of research subjects, this board is more commonly known as an Institutional Review Board or IRB. Confidentiality safeguards include assigning code numbers, as opposed to name or other personal information, on all biological specimens. Zygosity Testing The accuracy of DNA testing makes it the best method for determining zygosity, identical (monozygotic) versus fraternal (non-identical or dizygotic), in VET Registry twin members. The use of DNA for zygosity testing is only performed when both members of a twin pair agree to the testing. Other Genetic Testing for specific genes will not necessarily involve providing the participants with test results.

Proper citation: Vietnam Era Twin Registry Biospecimen Repository (RRID:SCR_008808) Copy   

•   Source: SciCrunch Registry

http://automl.info/tpot/

Software Python package to automate building of ML pipelines by combining flexible expression tree representation of pipelines with stochastic search algorithms such as genetic programming.

Proper citation: Tree-Based Pipeline Optimization Tool (RRID:SCR_017531) Copy   

•   Source: SciCrunch Registry

http://compmed.ouhsc.edu/brr.html

Center that conducts multidisciplinary studies on captive baboons and provides a resource of laboratory-born and laboratory-reared baboons for NIH-sponsored research programs.

Proper citation: Baboon Research Resouces (RRID:SCR_008333) Copy   

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http://www.anim.med.kyoto-u.ac.jp/nbr/default.aspx

NBRP-Rat was established to overcome limitations associated with properly utilizing existing rat resources. The collection of existing strains and genetic sub strains, phenotypic and genotypic characterization, cryopreservation of embryos, distribution of the collected rat strains, and a publicly accessible database of all assembled data are the major goals of this project. Once achieved, this unique database including the unique rat strains will become a powerful tool for biomedical research. A catalog of comparable, standardized and well characterized rat strains will lead to new and more precise research topics as well as it will facilitate biomedical sciences, drug discovery, advanced chemical research, and contributes to life sciences worldwide. As mentioned before, the major goals of NBRP-Rat are the collection, preservation and supply of rat strains. The repository includes strains from Japan and abroad, spontaneous mutants, congenic and recombinant strains as well as transgenic and mutagenized rats. Deposited rat strains are not only conserved as cryopreserved embryos and sperm. Many reference and frequently used rat strains are also maintained as living animals under SPF conditions. Furthermore, NBRP-rat provides a unique database on various rat strain phenotypes accompanied with basic genetic information. This allows scientists the selection of standardized and research specific strains. The animals themselves are provided free of charge to the research community (except for shipping costs). Sponsors: This project is one part of the National BioResource Projects (NBRP) in Japan for more than 20 species including animals, plants, microbes, tissues and DNAs. It is founded by the Japanese Ministry of Education, Culture, Sports, Science and Technology (Monkasho) and started in 2002.

Proper citation: National Bio Resource Project for the Rat. (RRID:SCR_012774) Copy   

•   Source: SciCrunch Registry