Tools   Select Another Resource Report Type

http://www.stats.ox.ac.uk/~marchini/software.html

A R package for assessing the power of genome-wide association studies using commercially available genotyping chips. The package encapsulates extensive simulation results generated by our program HAPGEN. (entry from Genetic Analysis Software)

Proper citation: GWAPOWER (RRID:SCR_009216) Copy   

•   Source: SciCrunch Registry

http://ki-su-arc.se/dementia-in-swedish-twins-harmony/

A twin study characterizing the importance of genetic factors for dementia and using discordant twin pairs to study other putative risk factors which control for genetic propensity to develop the disease. Molecular genetic studies have identified a number of mutations and other markers associated with early age of onset Alzheimer''''s disease. However, most cases of late age of onset dementia are considered sporadic, that is, without a clear genetic basis. Twin studies provide a unique opportunity to characterize the importance of genetic factors for dementia. Discordant twin pairs additionally provide the opportunity to study other putative risk factors which controlling for genetic propensity to develop the disease. In the first wave of the Study of Dementia in Swedish Twins, all SATSA twins born before 1935 have been screened for dementia symptoms. Over 190 suspects have been identified. This pilot study has been expanded to the entire registry in the study known as HARMONY. All twins aged 65 and older were invited to participate in a computer assisted telephone screening interview. A total of 13,519 individuals completed the interview (response rate = 75.9%). Dementia screening was based on the TELE, which includes the 10-item MSQ, other cognitive items (counting backwards, recalling three words, and similarities), and questions about health and daily functioning; or on Blessed scores obtained from a proxy interview. Among those screened, 1565 were positive for suspicion of dementia and were referred for complete clinical evaluation by a physician and a nurse. Once the preliminary in-person evaluation suggested that the suspected case was demented, the twin partner was also invited for an identical clinical work-up. Response rate for clinical evaluations is 71.4%. Approximately half of those visited for evaluation have been diagnosed as demented according to DSM-IV criteria, of which two-thirds have Alzheimer''''s disease. An extensive assessment of probable risk exposure is also included. Longitudinal follow-up is yet another feature of the study. Association studies with candidate genes are also being performed. Types of samples * DNA Number of sample donors * 1154 (sample collection completed)

Proper citation: KI Biobank - HARMONY (RRID:SCR_008884) Copy   

•   Source: SciCrunch Registry

http://ki.se/en/research/the-swedish-twin-registry-1

The Swedish Registry was established in the 1960s to study how smoking affects our health. Then little was known about the dangers of smoking. There is, at present, information on approximately 85 000 twin pairs, both monozygotic and dizygotic. As described by Lichtenstein et al., 2002, Pedersen et al., 2002 and Lichtenstein et al., 2006, the Swedish Twin Registry (STR) is the largest and most comprehensive twin registry in the world. Founded in 1961, the registry covers all like-sexed twin births since 1886, and all twin births (like- and unlike-sexed) since 1906. There are currently 89,000 pairs of twins registered, of which both members of 65,000 pairs are alive, with regular updates concerning vital status, addresses, hospital discharges, tumors, and causes of death, through subscriptions to national registries. Furthermore, there is extensive epidemiological data (exposures, symptoms and disease through questionnaires or interviews) on all pairs born 1986 or earlier, for most individuals involving 30 year baseline to follow-up information. Furthermore, data from the cohort of twins born since 1991 have been or will be contacted with a telephone interview with the parents of twins as they turn 9 (CATSS). Because the STR is an (inter)national resource, we are receptive to collaboration academic and industry-based researchers. Regardless of the type of research all potential collaborations or data access agreements must be first reviewed Steering Committee of the STR.

Proper citation: Swedish Twin Registry (RRID:SCR_008883) Copy   

•   Source: SciCrunch Registry

http://www.dna-network.ac.uk/

THIS RESOURCE IS NO LONGER IN SERVICE, documented on October 6, 2011. A project to collect, store and study DNA samples from tens of thousands of healthy volunteers and patients with diseases of major public importance. It aims to identify genes that are risk factors for the conditions. The network consists of 13 collections led by different clinicians throughout the UK. At its heart is an archive infrastructure which manages the DNA and the information associated with it. The European Collection of Cell Cultures in Porton Down handles the blood, peripheral blood lymphocytes and EBV-transformed cell lines, while the Centre for Integrated Genomic Medical Research at Manchester University manages the DNA. These banked samples are available to UK and international researchers, who can examine data and set up collaborative work by registering at the DNA Network's website. The conditions for which samples are currently collected and stored are: Acute leukemia, Asthma and eczema, Late onset Alzheimer's disease, Breast cancer, Colorectal cancer, Coronary artery disease, Glomerulonephritis, Hypertension, Age-related macular degeneration, Multiple sclerosis, Parkinson's disease, Type 2 diabetes, Unipolar depression.

Proper citation: UK DNA Banking Network (RRID:SCR_010619) Copy   

•   Source: SciCrunch Registry

http://ki.se/ki/jsp/polopoly.jsp?d=29350&a=31589&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 29, 2016. The aim of EXT (extinction) is to investigate the relation between specific genetic variations and cognitive control process in fear. Blood samples will be collected from about 300 healthy, young individuals (age 18-35).

Proper citation: KI Biobank - EXT (RRID:SCR_008875) Copy   

•   Source: SciCrunch Registry

http://www.cartagene.qc.ca/en

As both the public health survey of Quebec, and the Quebec resource for scientists interested in personalized medicine, genomics and public health, this public resource operates under a governance framework and consists of a databank and a biobank. The database contains environmental, demographic and health data. The biobank contains DNA, blood and urine samples. Access to CARTaGENE will be granted to researchers who are seeking to better understand how genes interact with other genes, with the environment and with lifestyle factors. They have collected in-depth information on over 20 000 Quebecers, including 446 sociodemographic, life-style and health data, 190 physiological parameters, 22 types of biochemical analyses and 41 types of haematological analyses. They have also collected 11 types of blood, plasma, serum and urine samples from most participants. Genealogical reconstruction of recruited participants, in collaboration with BALSAC Project, is also possible. CARTaGENE data and samples include the following: Health Questionnaire, Physical measures, Biochemical and hematological analysis, Biological samples stored in the Biobank. CARTagene is currently contacting participants (who have agreed to be recontacted) to collect additional data on environmental exposure. Data on dietary habits will be collected during the second phase of this component which will begin soon. Any scientific researcher working in a public or private organization at the national or international level may apply for access to CARTaGENE samples or data.

Proper citation: CARTaGENE (RRID:SCR_010614) Copy   

•   Source: SciCrunch Registry

http://www.sapaldia.net/en/

SAPALDIA (Swiss study on Air Pollution and Lung Disease in adults) is a multi-center study in eight geographic areas representing the range of environmental, meteorological and socio-demographic conditions of Switzerland, which studies the effects of air pollution on the respiratory and cardiovascular health in adults. Local centers are: Aarau, Basel, Davos, Geneva, Lugano, Montana, Payerne, and Wald. It was initiated in 1991 (SAPALDIA 1) with a follow-up assessment in 2002 (SAPALDIA 2). This study has allowed to assess 1) prevalence and development of major respiratory and allergic symptoms and diseases and the age-related decline in lung function, 2) the distribution of heart rate variability in the general population over age 50, 3) the association of these health indicators with individual long term exposure to air pollution, other toxic inhalants, life style and molecular factors. Another follow-up examination (SAPALDIA 3) started in January 2010. This study is well positioned to address crucial questions of air pollution epidemiology and important environmental health policy-related questions in the coming years. When SAPALDIA was initiated in 1991, 9''''651 subjects, aged 18 to 60 years, were recruited for a detailed computer-based interview and more than 90% of them underwent lung function and atopy testing. More than 7''''000 of the subjects had bronchial reactivity tested by a methacholine challenge. SAPALDIA shares parts of its study protocol with the European Community Respiratory Health Survey (ECRHS) with which it is linked through the study center of Basel. Since 1991 SAPALDIA has been carefully following address histories of its participants. In the 2002 follow-up, 8''''047 (83%) provided health information, 6''''528 persons underwent physical re-examination, and 6''''345 provided blood samples to establish an extensive blood, plasma, serum and DNA bank. In addition, 1''''813 subjects aged 50 or older participated in 24h-ECG Holter monitoring to provide detailed data on parameters of heart rate variability. With the inclusion of cardiovascular endpoints, SAPALDIA is one of the first studies examining effects from long-term exposure to air pollution on cardiovascular health parameters as well as mutual influence between the respiratory and the cardiovascular system. The SAPALDIA bio-bank has allowed scientific publications on the association between some genetic profiles (gene polymorphism) and the propensity to develop asthma, allergic diseases, or accelerated lung function decline with age. Ongoing studies are focusing on gene-environment interactions a crucial question to understand why some persons suffer more from the effect of air pollution than others.

Proper citation: SAPALDIA (RRID:SCR_013416) 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

https://cran.r-project.org/web/packages/onemap/index.html

Software environment for constructing linkage maps in outcrossing plant species, using full-sib families derived from two outbreed (non-inbreeding) parent plants. (entry from Genetic Analysis Software)

Proper citation: R/ONEMAP (RRID:SCR_009371) Copy   

•   Source: SciCrunch Registry

https://cran.r-project.org/web/packages/hapassoc/index.html

Software application using a likelihood approach to inference of haplotype and nongenetic effects and their interactions in generalized linear models of disease penetrance, when haplotype phase is unknown for some subjects. Parameter estimates are obtained by use of an expectation-maximization (EM) algorithm and standard errors are calculated using Louis'' formula. (entry from Genetic Analysis Software)

Proper citation: R/HAPASSOC (RRID:SCR_009365) Copy   

•   Source: SciCrunch Registry

http://www.cs.cmu.edu/~genome/FAST-MAP.html

Fluorescent allele-calling software toolkit: a computer software for fully automated microsatellite genotyping. (entry from Genetic Analysis Software)

Proper citation: FASTMAP (1) (RRID:SCR_008346) Copy   

•   Source: SciCrunch Registry

https://cibersort.stanford.edu/

Software tool to provide an estimation of the abundances of member cell types in a mixed cell population, using gene expression data. Used for characterizing cell composition of complex tissues from their gene expression profiles, large scale analysis of RNA mixtures for cellular biomarkers and therapeutic targets.

Proper citation: CIBERSORT (RRID:SCR_016955) Copy   

•   Source: SciCrunch Registry

http://www.jax.org/mmrrc/

Center for mutant mouse research and distribution. The objectives of the JAX MMRRC are to: identify and evaluate biomedically-significant mice, import/acquire and archive mouse strains, distribute mouse strains, and operate a control program to ensure genetic stability.

Proper citation: Mutant Mouse Resource and Research Center - Jackson Laboratory (RRID:SCR_016446) Copy   

•   Source: SciCrunch Registry

http://bowtie-bio.sourceforge.net/recount/

RNA-seq gene count datasets built using the raw data from 18 different studies. The raw sequencing data (.fastq files) were processed with Myrna to obtain tables of counts for each gene. For ease of statistical analysis, they combined each count table with sample phenotype data to form an R object of class ExpressionSet. The count tables, ExpressionSets, and phenotype tables are ready to use and freely available. By taking care of several preprocessing steps and combining many datasets into one easily-accessible website, we make finding and analyzing RNA-seq data considerably more straightforward.

Proper citation: ReCount - A multi-experiment resource of analysis-ready RNA-seq gene count datasets (RRID:SCR_001774) Copy   

•   Source: SciCrunch Registry

http://gerg01.gsc.riken.jp/cage/mm5

A web system, which could search and display to current CAGE library information in CAGE Database.

Proper citation: CAGE Basic Viewer for Mus musculus (RRID:SCR_000451) Copy   

•   Source: SciCrunch Registry

http://ccb.jhu.edu/software/glimmerhmm/

A gene finder based on a Generalized Hidden Markov Model (GHMM). Although the gene finder conforms to the overall mathematical framework of a GHMM, additionally it incorporates splice site models adapted from the GeneSplicer program and a decision tree adapted from GlimmerM. It also utilizes Interpolated Markov Models for the coding and noncoding models . Currently, GlimmerHMM's GHMM structure includes introns of each phase, intergenic regions, and four types of exons (initial, internal, final, and single).

Proper citation: GlimmerHMM (RRID:SCR_002654) Copy   

•   Source: SciCrunch Registry

http://www.broad.mit.edu/mpr/lung

Data set of a molecular taxonomy of lung carcinoma, the leading cause of cancer death in the United States and worldwide. Using oligonucleotide microarrays, researchers analyzed mRNA expression levels corresponding to 12,600 transcript sequences in 186 lung tumor samples, including 139 adenocarcinomas resected from the lung. Hierarchical and probabilistic clustering of expression data defined distinct sub-classes of lung adenocarcinoma. Among these were tumors with high relative expression of neuroendocrine genes and of type II pneumocyte genes, respectively. Retrospective analysis revealed a less favorable outcome for the adenocarcinomas with neuroendocrine gene expression. The diagnostic potential of expression profiling is emphasized by its ability to discriminate primary lung adenocarcinomas from metastases of extra-pulmonary origin. These results suggest that integration of expression profile data with clinical parameters could aid in diagnosis of lung cancer patients.

Proper citation: Classification of Human Lung Carcinomas by mRNA Expression Profiling Reveals Distinct Adenocarcinoma Sub-classes (RRID:SCR_003010) Copy   

•   Source: SciCrunch Registry

http://eyebrowse.cit.nih.gov/

EyeBrowse displays expressed sequence tag (EST) cDNA clones from eye tissues (derived from NEIBank and other sources) aligned with current versions of the human, rhesus, mouse, rat, dog, cow, chicken, or zebrafish genomes, including reference sequences for known genes. This gives a simplified view of gene expression activity from different parts of the eye across the genome. The data can be interrogated in several ways. Specific gene names can be entered into the search window. Alternatively, regions of the genome can be displayed. For example, entering two STS markers separated by a semicolon (e.g. RH18061;RH80175) allows the display of the entire chromosomal region associated with the mapping of a specific disease locus. ESTs for each tissue can then be displayed to help in the selection of candidate genes. In addition, sequences can be entered into a BLAT search and rapidly aligned on the genome, again showing eye derived ESTs for the same region. EyeBrowse includes a custom track display SAGE data for human eye tissues derived from the EyeSAGE project. The track shows the normalized sum of SAGE tag counts from all published eye-related SAGE datasets centered on the position of each identifiable Unigene cluster. This indicates relative activity of each gene locus in eye. Clicking on the vertical count bar for a particular location will bring up a display listing gene details and linking to specific SAGE counts for each eye SAGE library and comparisons with normalized sums for neural and non-neural tissues. To view or alter settings for the EyeSAGE track on EyeBrowse, click on the vertical gray bar at the left of the display. Other custom tracks display known eye disease genes and mapped intervals for candidate loci for retinal disease, cataract, myopia and cornea disease. These link back to further information at NEIBank. For mouse, there is custom track data for ChIP-on-Chip of RNA-Polymerase-II during photoreceptor maturation.

Proper citation: EyeBrowse (RRID:SCR_008000) Copy   

•   Source: SciCrunch Registry

http://cistrome.org/finder

Data portal that can help query, evaluate and visualize publicly available Chromatin immunoprecipitation and DNase I hypersensitivity assays with high-throughput sequencing data in human and mouse. The database currently contains 6378 samples over 4391 datasets, 313 factors and 102 cell lines or cell populations (May 2013). Each dataset has gone through a consistent analysis and quality control pipeline; therefore, users could evaluate the overall quality of each dataset before examining binding sites near their genes of interest. CistromeFinder is integrated with UCSC genome browser for visualization, Primer3Plus for ChIP-qPCR primer design and CistromeMap for submitting newly available datasets. It also allows users to leave comments to facilitate data evaluation and update.

Proper citation: CistromeFinder (RRID:SCR_005405) Copy   

•   Source: SciCrunch Registry

http://www.ucl.ac.uk/cardiovasculargeneontology/

Full Gene Ontology annotation to genes associated with cardiovascular processes. Every GO annotation made, is attributed to an identified source, such as a publication identifier (PMID), and an indication of the type of evidence which supports the association between the gene product and the GO term. Over 4,000 cardiovascular associated genes have been identified. A variety of tools have been provided to enable cardiovascular scientists to review the annotation of their ''''favorite'''' gene and suggest information that may be missing, inaccurate or incomplete in these annotations. Annotation suggestions can be sent through the feedback form or by email. The Gene Ontology (GO) vocabulary is the established standard for the functional annotation of gene products. By using GO to curate scientific literature and by integrating results from high-quality high-throughput experiments they will create an information-rich resource for the cardiovascular-research community, enabling researchers to rapidly evaluate and interpret existing data and generate hypotheses to guide future research.

Proper citation: Cardiovascular Gene Ontology Annotation Initiative (RRID:SCR_004795) Copy   

•   Source: SciCrunch Registry