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http://ki.se/ki/jsp/polopoly.jsp?d=29350&a=36311&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 29, 2016. Study to investigate symptoms of Attention Deficit Hyperactivity Disorder (ADHD) according to DSM-IV in adults with special focus on attention deficit. Information is used from the Swedish Twin study of Adults: genes and Environment (STAGE) from the Swedish Twin Registry. ADHD-discordant and concordant samples of pairs of twins for ADHD are selected from STAGE for studies of brain structure and function with Functional Magnetic Resonance Imaging (fMRI).

Proper citation: KI Biobank STAGE-ADHD (RRID:SCR_005921) Copy   

•   Source: SciCrunch Registry

http://ki.se/ki/jsp/polopoly.jsp?d=29328&a=31532&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. Longitudinal studies that consist of more than 40 000 subjects that have been followed since 1986 to be used in studies on how hereditary factors influence the development and progression of Chronic Obstructive Pulmonary Disease (COPD). Its overall objective to find ??tg??rdbara determinants of especially asthma and COPD but also allergy and OSAS (obstructive sleep apnea syndrome). Research is carried out in two huvudforskningslinger; population studies among adults of asthma, allergies, COPD, chronic bronchitis and OSAS. The second main line of longitudinal studies on asthma and allergies among schoolchildren with measurement of incidence, remission and morbidity. The study followed annually all 3500 schoolchildren since 1996 when they went in first and second class in Kiruna, Lulea and Pitea. In addition to questionnaire studies contained in methods, as well as in the adult studies, mainly respiratory function, BMI, skin prick test and clinical interview. Main fragestallningen of risk factors for incident asthma and allergy.

Proper citation: OLIN - Obstructive Lung disease in Northern Sweden (RRID:SCR_006009) Copy   

•   Source: SciCrunch Registry

http://ki.se/ki/jsp/polopoly.jsp?d=29354&a=36389&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented September 2, 2016. The Swedish twin registry has recently examined all twins in Sweden born between 1959-1985. 25,000 individuals participated in the study. The twins had to implement a Web-based survey on the Internet or a telephone interview where we had to answer questions about, among other things, about the diseases they have, or have had, behaviors, eating and drinking habits, smoking habits, etc. The aim of the study is to extend the information in the Swedish twin registry. Our goal with twin studies are, inter alia, to study the relative importance of the heritage and environment for the emergence of various diseases. The responses from the study is currently the basis for a number of analyses regarding how inheritance and environment affects disease and tobacco habits. Currently third follow-up STAGE where 10,000 twins that had previously taken part are contacted again. The purpose of alteplase randomized controlled trials is to follow up the same individuals one year after the first and second questionnaire replies were received to see if anything has changed. The issues we are interested in the follow-up to include changes in general health, working and living situation, your weight, smoking habits, etc. Study Results The results we have so far come to and which we can present here are figures on the prevalence of certain diseases. The figures give a rough estimate of the incidence of these diseases will look for all individuals, born in Sweden in 1959-1985. The figures are based on the questions on the questionnaire which the twins themselves had to answer whether they have or have had various diseases.

Proper citation: KI Biobank - STAGE (RRID:SCR_006004) Copy   

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http://ki.se/en/meb/the-child-and-adolescent-twin-study-in-sweden-catss

Data and biomaterial from a study investigating how both genetic and environmental effects influence health and behavior in children and adolescents. In this study parents to all Swedish twins turning 9 or 12 years are asked to complete a telephone interview concerning the health and behavior of their twins. The interview screens for several different health (e.g., asthma, allergies, diabetes) and behavior (e.g., attention, social interaction) problems. Some of the families will be followed up with additional questionnaires, as well as with genotyping and clinical interviews. The response frequency of the telephone interview is 80%. By November 2008, 7408 interviews had taken place. Types of samples * Saliva alt. EDTA whole blood * DNA Number of sample donors: 10 721 (June 2010)

Proper citation: CATSS - Child and Adolescent Twin Study in Sweden (RRID:SCR_005945) Copy   

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http://www.well.ox.ac.uk/platypus

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 16,2023. Software tool designed for efficient and accurate variant detection in high throughput sequencing data. Haplotype based variant caller for next generation sequence data.

Proper citation: Platypus (RRID:SCR_005389) Copy   

•   Source: SciCrunch Registry

http://www.uni-bonn.de/~umt70e/soft.htm

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 5th,2023. Software application that calculates the sample size required for obtaining a prescribed power against a specified alternative for TDT. (entry from Genetic Analysis Software)

Proper citation: TDTPOWER (RRID:SCR_005021) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29354&a=31618&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. The aim of the study is to estimate the importance of genetic (primary) and environmental factors for economic behavior by conducting a series of standard behavioral economics experiments on a sample of twins from the Swedish Twin Registry.

Proper citation: KI Biobank - Economical Behavior (RRID:SCR_005934) Copy   

•   Source: SciCrunch Registry

http://genetics.agrsci.dk/~bg/popgen/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 11, 2023. Software application that calculates a number of different genetic identities, phylogeny reconstructing measures, and distance reconstructing measures (entry from Genetic Analysis Software)

Proper citation: POPDIST (RRID:SCR_004904) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29332&a=103697&l=en

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 3rd,2023. Recently it has been discovered that specific Single Nucleotide Polymorphisms (SNPs) may elevate the risk of developing prostate cancer. This study aims at investigating whether it is possible to use these SNPs in a clinical setting in order to sharpen the diagnostic tools when investigating if a man has prostate cancer. By collecting blood from men who have undergone a needle biopsy of the prostate and do a SNP analysis of their genes and compare this with the result of the biopsy and PSA result we hope to be able to develop a test that is more specific than the routine that is being used today. Sample types: * EDTA whole blood * DNA Number of sample donors: 5321 (June 2010)

Proper citation: SPSAC - Stockholm PSA Cohort (RRID:SCR_006042) Copy   

•   Source: SciCrunch Registry

http://www.ebi.ac.uk/swissprot/hpi/hpi.html

THIS RESOURCE IS NO LONGER IN SERVICE, documented on August 03, 2011. IT HAS BEEN REPLACED BY A NEW UniProtKB/Swiss-Prot ANNOTATION PROGRAM CALLED UniProt Chordata protein annotation program. The Human Proteome Initiative (HPI) aims to annotate all known human protein sequences, as well as their orthologous sequences in other mammals, according to the quality standards of UniProtKB/Swiss-Prot. In addition to accurate sequences, we strive to provide, for each protein, a wealth of information that includes the description of its function, domain structure, subcellular location, similarities to other proteins, etc. Although as complete as currently possible, the human protein set they provide is still imperfect, it will have to be reviewed and updated with future research results. They will also create entries for newly discovered human proteins, increase the number of splice variants, explore the full range of post-translational modifications (PTMs) and continue to build a comprehensive view of protein variation in the human population. The availability of the human genome sequence has enabled the exploration and exploitation of the human genome and proteome to begin. Research has now focused on the annotation of the genome and in particular of the proteome. With expert annotation extracted from the literature by biologists as the foundation, it has been possible to expand into the areas of data mining and automatic annotation. With further development and integration of pattern recognition methods and the application of alignments clustering, proteome analysis can now be provided in a meaningful way. These various approaches have been integrated to attach, extract and combine as much relevant information as possible to the proteome. This resource should be valuable to users from both research and industry. We maintain a file containing all human UniProtKB/Swiss-Prot entries. This file is updated at every biweekly release of UniProt and can be downloaded by FTP download, HTTP download or by using a mirroring program which automatically retrieves the file at regular intervals.

Proper citation: Human Proteomics Initiative (RRID:SCR_002373) Copy   

•   Source: SciCrunch Registry

http://www.HGPD.jp

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 4,2023.The Human Gene and Protein Database presents SDS-PAGE patterns and other informations of human genes and proteins. The HGPD was constructed from full-length cDNAs. For conversion to Gateway entry clones, we first determined an open reading frame (ORF) region in each cDNA meeting the criteria. Those ORF regions were PCR-amplified utilizing selected resource cDNAs as templates. All the details of the construction and utilization of entry clones will be published elsewhere. Amino acid and nucleotide sequences of an ORF for each cDNA and sequence differences of Gateway entry clones from source cDNAs are presented in the GW: Gateway Summary window. Utilizing those clones with a very efficient cell-free protein synthesis system featuring wheat germ, we have produced a large number of human proteins in vitro. Expressed proteins were detected in almost all cases. Proteins in both total and supernatant fractions are shown in the PE: Protein Expression window. In addition, we have also successfully expressed proteins in HeLa cells and determined subcellular localizations of human proteins. These biological data are presented on the frame of cDNA clusters in the Human Gene and Protein Database. To build the basic frame of HGPD, sequences of FLJ full-length cDNAs and others deposited in public databases (Human ESTs, RefSeq, Ensembl, MGC, etc.) are assembled onto the genome sequences (NCBI Build 35 (UCSC hg17)). The majority of analysis data for cDNA sequences in HGPD are shared with the FLJ Human cDNA Database (http://flj.hinv.jp/) constructed as a human cDNA sequence analysis database focusing on mRNA varieties caused by variations in transcription start site (TSS) and splicing.

Proper citation: Human Gene and Protein Database (HGPD) (RRID:SCR_002889) Copy   

•   Source: SciCrunch Registry

http://www.ecoli-york.org/

A database that curates new experimental and bioinformatic information about the genes and gene products of the model bacterium Escherichia coli K-12 strain MG1655. It has been created to integrate information from post-genomic experiments into a single resource with the aim of providing functional predictions for the 1500 or so gene products for which we have no knowledge of their physiological function. While EchoBASE provides a basic annotation of the genome, taken from other databases, its novelty is in the curation of post-genomic experiments and their linkage to genes of unknown function. Experiments published on E. coli are curated to one of two levels. Papers dealing with the determination of function of a single gene are briefly described, while larger dataset are actually included in the database and can be searched and manipulated. This includes data for proteomics studies, protein-protein interaction studies, microarray data, functional genomic approaches (looking at multiple deletion strains for novel phenotypes) and a wide range of predictions that come out of in silico bioinformatic approaches. The aim of the database is to provide hypothesis for the functions of uncharacterized gene products that may be used by the E. coli research community to further our knowledge of this model bacterium.

Proper citation: EchoBASE (RRID:SCR_002430) Copy   

•   Source: SciCrunch Registry

http://weatherby.genetics.utah.edu/cgi-bin/Phevor/PhevorWeb.html

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on October 28,2025. Tool that integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. It works by combining knowledge resident in multiple biomedical ontologies with the outputs of variant prioritization tools. It does so using an algorithm that propagates information across and between ontologies. This process enables Phevor to accurately reprioritize potentially damaging alleles identified by variant prioritization tools in light of gene function, disease, and phenotype knowledge. Phevor is especially useful for single exome and family trio-based diagnostic analyses, the most commonly occurring clinical scenarios, and ones for which existing personal-genomes diagnostic tools are most inaccurate and underpowered. Phevor not only improves diagnostic accuracy for individuals presenting with established disease phenotypes, but also for those with previously undescribed and atypical disease presentations. Importantly, Phevor is not limited to known diseases, or known disease-causing alleles.

Proper citation: Phevor (RRID:SCR_002273) Copy   

•   Source: SciCrunch Registry

http://greengenes.secondgenome.com/downloads

Database that provides access to the current and comprehensive 16S rRNA gene sequence alignment for browsing, blasting, probing, and downloading. The data and tools can assist the researcher in choosing phylogenetically specific probes, interpreting microarray results, and aligning/annotating novel sequences. The 16S rRNA gene database provides chimera screening, standard alignment, and taxonomic classification using multiple published taxonomies. ARB users can use Greengenes to update local databases., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: Greengenes (RRID:SCR_002830) Copy   

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http://www.ncbi.nlm.nih.gov/ieb/research/acembly/

THIS RESOURCE IS NO LONGER IN SERVICE, documented May 10, 2017. A pilot effort that has developed a centralized, web-based biospecimen locator that presents biospecimens collected and stored at participating Arizona hospitals and biospecimen banks, which are available for acquisition and use by researchers. Researchers may use this site to browse, search and request biospecimens to use in qualified studies. The development of the ABL was guided by the Arizona Biospecimen Consortium (ABC), a consortium of hospitals and medical centers in the Phoenix area, and is now being piloted by this Consortium under the direction of ABRC. You may browse by type (cells, fluid, molecular, tissue) or disease. Common data elements decided by the ABC Standards Committee, based on data elements on the National Cancer Institute''s (NCI''s) Common Biorepository Model (CBM), are displayed. These describe the minimum set of data elements that the NCI determined were most important for a researcher to see about a biospecimen. The ABL currently does not display information on whether or not clinical data is available to accompany the biospecimens. However, a requester has the ability to solicit clinical data in the request. Once a request is approved, the biospecimen provider will contact the requester to discuss the request (and the requester''s questions) before finalizing the invoice and shipment. The ABL is available to the public to browse. In order to request biospecimens from the ABL, the researcher will be required to submit the requested required information. Upon submission of the information, shipment of the requested biospecimen(s) will be dependent on the scientific and institutional review approval. Account required. Registration is open to everyone., documented August 29, 2016. AceView offers an integrated view of the human, nematode and Arabidopsis genes reconstructed by co-alignment of all publicly available mRNAs and ESTs on the genome sequence. Our goals are to offer a reliable up-to-date resource on the genes and their functions and to stimulate further validating experiments at the bench. AceView provides a curated, comprehensive and non-redundant sequence representation of all public mRNA sequences (mRNAs from GenBank or RefSeq, and single pass cDNA sequences from dbEST and Trace). These experimental cDNA sequences are first co-aligned on the genome then clustered into a minimal number of alternative transcript variants and grouped into genes. Using exhaustively and with high quality standards the available cDNA sequences evidences the beauty and complexity of mammals' transcriptome, and the relative simplicity of the nematode and plant transcriptomes. Genes are classified according to their inferred coding potential; many presumably non-coding genes are discovered. Genes are named by Entrez Gene names when available, else by AceView gene names, stable from release to release. Alternative features (promoters, introns and exons, polyadenylation signals) and coding potential, including motifs, domains, and homologies are annotated in depth; tissues where expression has been observed are listed in order of representation; diseases, phenotypes, pathways, functions, localization or interactions are annotated by mining selected sources, in particular PubMed, GAD and Entrez Gene, and also by performing manual annotation, especially in the worm. In this way, both the anatomy and physiology of the experimentally cDNA supported human, mouse and nematode genes are thoroughly annotated. Our goals are to offer an up-to-date resource on the genes, in the hope to stimulate further experiments at the bench, or to help medical research. AceView can be queried by meaningful words or groups of words as well as by most standard identifiers, such as gene names, Entrez Gene ID, UniGene ID, GenBank accessions.

Proper citation: AceView (RRID:SCR_002277) Copy   

•   Source: SciCrunch Registry

http://kb.phenoscape.org/

Knowledgebase that uses ontologies to integrate phenotypic data from genetic studies of zebrafish with evolutionary variable phenotypes from the systematic literature of ostariophysan fishes. Users can explore the data by searching for anatomical terms, taxa, or gene names. The expert system enables the broad scale analysis of phenotypic variation across taxa and the co-analysis of these evolutionarily variable features with the phenotypic mutants of model organisms. The Knowledgebase currently contains 565,158 phenotype statements about 2,527 taxa, sourced from 57 publications, as well as 38,189 phenotype statements about 4,727 genes, retrieved from ZFIN. 2013-01-26.

Proper citation: Phenoscape Knowledgebase (RRID:SCR_002821) Copy   

•   Source: SciCrunch Registry

http://www.angis.org.au/Databases/Heart/

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. The aim of this locus-specific mutation database was to provide an online resource that contains summarized and updated information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data, for researchers and clinicians. It also serves as a means of publishing previously unpublished data, which could be of value in understanding genotype/phenotype correlations. This database contains mutations in various genes known to cause familial hypertrophic cardiomyopathy, a genetic disorder associated with defects in the sarcomere [1]. Only gene symbols approved by HUGO are used and mutations are reported in accordance with guidelines recommended by the Mutation Database Initiative of HUGO and EBI.

Proper citation: Familial Hypertrophic Cardiomyopathy DNA Mutation Database (RRID:SCR_002346) Copy   

•   Source: SciCrunch Registry

http://dbtbs.hgc.jp/

Database of experimentally validated gene regulatory relations and the corresponding transcription factor binding sites upstream of Bacillus subtilis genes. The database allows the comparison of systematic experiments with individual experimental results in order to facilitate the elucidation of the complete B. subtilis gene regulatory network. The current version is constructed by surveying 947 references and contains the information of 120 binding factors and 1475 gene regulatory relations. For each promoter, all of its known cis-elements are listed according to their positions, while these cis-elements are aligned to illustrate the consensus sequence for each transcription factor. All probable transcription factors coded in the genome were classified using Pfam motifs. The DBTBS database was reorganized to show operons instead of individual genes as the building blocks of gene regulatory networks. It now contains 463 experimentally known operons, as well as their terminator sequences if identifiable. In addition, 517 transcriptional terminators were identified computationally. (De Hoon, M.J.L. et al., PLoS Comput. Biol. 1, e25 (2005)). A new section was added under "Motif conservation", which presents hexameric motifs found to be conserved to different extents between upstream intergenic regions of genus-specific subgroups of homologous proteins.

Proper citation: DBTBS (RRID:SCR_002345) Copy   

•   Source: SciCrunch Registry

http://eggnog.embl.de

A database of orthologous groups of genes. The orthologous groups are annotated with functional description lines (derived by identifying a common denominator for the genes based on their various annotations), with functional categories (i.e derived from the original COG/KOG categories). eggNOG's database currently counts 1.7 million orthologous groups in 3686 species, covering over 7.7 million proteins (built from 9.6 million proteins). (Jan 30, 2014)

Proper citation: eggNOG (RRID:SCR_002456) Copy   

•   Source: SciCrunch Registry

http://edas2.bioinf.fbb.msu.ru/

Databases of alternatively spliced genes with data on the alignment of proteins, mRNAs, and EST. It contains information on all exons and introns observed, as well as elementary alternatives formed from them. The database makes it possible to filter the output data by changing the cut-off threshold by the significance level. It contains splicing information on human, mouse, dog (not yet functional) and rat (not yet functional). For each database, users can search by keyword or by overall gene expression. They can also view genes based on chromosomal arrangement or other position in genome (exon, intron, acceptor site, donor site), functionality, position, conservation, and EST coverage. Also offered is an online Fisher test.

Proper citation: EDAS - EST-Derived Alternative Splicing Database (RRID:SCR_002449) Copy   

•   Source: SciCrunch Registry