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| Resource Name | Proper Citation | Abbreviations | Resource Type |
Description |
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HAMSTeRS - The Haemophilia A Mutation Structure Test and Resource Site Resource Report Resource Website 1+ mentions |
HAMSTeRS - The Haemophilia A Mutation Structure Test and Resource Site (RRID:SCR_006883) | HAMSTeRS, HADB, HADB/HAMSTeRS, HADB / HAMSTeRS | data repository, storage service resource, data or information resource, service resource, database |
THIS RESOURCE IS NO LONGER IN SERVICE, documented on August 27, 2019. Database for those interested in the consequences of Factor VIII genetic variation at the DNA and protein level, it provides access to data on the molecular pathology of haemophilia A. The database presents a review of the structure and function of factor VIII and the molecular genetics of haemophilia A, a real time update of the biostatistics of each parameter in the database, a molecular model of the A1, A2 and A3 domains of the factor VIII protein (based on the crystal structure of caeruloplasmin) and a bulletin board for discussion of issues in the molecular biology of factor VIII. The database is completely updated with easy submission of point mutations, deletions and insertions via e-mail of custom-designed forms. A methods section devoted to mutation detection is available, highlighting issues such as choice of technique and PCR primer sequences. The FVIII structure section now includes a download of a FVIII A domain homology model in Protein Data Bank format and a multiple alignment of the FVIII amino-acid sequences from four species (human, murine, porcine and canine) in addition to the virtual reality simulations, secondary structural data and FVIII animation already available. Finally, to aid navigation across this site, a clickable roadmap of the main features provides easy access to the page desired. Their intention is that continued development and updating of the site shall provide workers in the fields of molecular and structural biology with a one-stop resource site to facilitate FVIII research and education. To submit your mutants to the Haemophilia A Mutation Database email the details. (Refer to Submission Guidelines) |
function, gene, genetic, analysis, bioinformatic, biological, biostatistic, caeruloplasmiin, crystal, haemophilia a, human, murine, porcine, canine, level, molecular, molecule, mutation, nucleic acid, or disease- specific databases, pathology, structural, structure, system-, vitromutagenesis, fviii genetic variation, dna, protein, factor viii, blood-clotting protein, point mutation, deletion, insertion | has parent organization: Imperial College London; London; United Kingdom | Pfizer UK ; MRC |
PMID:9399839 PMID:9016520 PMID:8594555 |
THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-21184 | http://europium.csc.mrc.ac.uk/WebPages/Main/main.htm, http://hadb.org.uk/ | SCR_006883 | HAMSTeRS - The Haemophilia A Mutation Structure Test Resource Site, Haemophilia A Mutation Database, Haemophilia A Mutation Structure Test and Resource Site, Haemophilia A Mutation Structure Test Resource Site | 2026-02-14 02:01:14 | 9 | ||||
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FastSemSim Resource Report Resource Website 1+ mentions |
FastSemSim (RRID:SCR_006919) | FastSemSim | software resource, software library, software toolkit | A package that implements several semantic similarity measures. It is both a library and an end-user application, featuring an intuitive graphical user interface (GUI). It has been implemented with the aim of being fast, expandable, and easy to use. It allows the user to work with the most updated version of GO database and customizable annotation corpora. It provides a set of logically-organized classes that can be easily exploited to both integrate semantic similarity into different analysis pipelines and extend the library with new measures. Platform: Windows compatible, Mac OS X compatible, Linux compatible, Unix compatible | software library, functional similarity, semantic similarity, graphical user interface, gene ontology, annotation, parse, gene, protein |
is listed by: Gene Ontology Tools is related to: Gene Ontology has parent organization: University of Padua; Padua; Italy has parent organization: SourceForge |
Open unspecified license - Free for academic use. GNU GPL license. However, This software is currently unpublished work. You must contact us before using it or its results or any work/app. based on top of it in any published work. | nlx_149309 | SCR_006919 | 2026-02-14 02:01:24 | 6 | ||||||||
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GtRNAdb - Genomic tRNA Database Resource Report Resource Website 100+ mentions |
GtRNAdb - Genomic tRNA Database (RRID:SCR_006939) | GtRNAdb | data analysis service, analysis service resource, data or information resource, production service resource, service resource, database | This genomic tRNA database contains tRNA gene predictions made by the program tRNAscan-SE (Lowe & Eddy, Nucl Acids Res 25: 955-964, 1997) on complete or nearly complete genomes. Unless otherwise noted, all annotation is automated, and has not been inspected for agreement with published literature. Transfer RNAs (tRNAs) represent the single largest, best-understood class of non-protein coding RNA genes found in all living organisms. By far, the major source of new tRNAs is computational identification of genes within newly sequenced genomes. To organize the rapidly growing collection and enable systematic analyses, we created the Genomic tRNA Database (GtRNAdb). The web resource provides overview statistics of tRNA genes within each analyzed genome, including information by isotype and genetic locus, easily downloadable primary sequences, graphical secondary structures and multiple sequence alignments. Direct links for each gene to UCSC eukaryotic and microbial genome browsers provide graphical display of tRNA genes in the context of all other local genetic information. The database can be searched by primary sequence similarity, tRNA characteristics or phylogenetic group. Inevitably with automated sequence analysis, we find exceptions to general identification rules, isoacceptor type predictions (esp. due to variable post-transcriptional anticodon modification), and questionable tRNA identifications (due to pseudogenes, SINES, or other tRNA-derived elements). We attempt to document all cases we come across, and welcome feedback on new or unrecognized discrepancies. | trna, trna gene prediction, genome, gene, isotype, genetic locus, blast, secondary structure, sequence alignment, fasta, seq, eukaryotic, microbial, primary sequence, phylogenetic group, FASEB list | has parent organization: University of California at Santa Cruz; California; USA | Hewlett-Packard | PMID:18984615 | nif-0000-02932 | SCR_006939 | Genomic tRNA Database | 2026-02-14 02:01:18 | 336 | ||||||
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Europhenome Mouse Phenotyping Resource Resource Report Resource Website 10+ mentions |
Europhenome Mouse Phenotyping Resource (RRID:SCR_006935) | EuroPhenome | data analysis service, analysis service resource, data or information resource, production service resource, service resource, database | Open source software system for capturing, storing and analyzing raw phenotyping data from SOPs contained in EMPReSS, it provides access to raw and annotated mouse phenotyping data generated from primary pipelines such as EMPReSSlim and secondary procedures from specialist centers. Mutants of interest can be identified by searching the gene or the predicted phenotype. You can also access phenotype data from the EMPReSSlim Pipeline for inbred mouse strains. Initially EuroPhenome was developed within the EUMORPHIA programme to capture and store pilot phenotyping data obtained on four background strains (C57BL/6J, C3H/HeBFeJ, BALB/cByJ and 129/SvPas). EUMORPHIA (European Union Mouse Research for Public Health and Industrial Applications) was a large project comprising of 18 research centers in 8 European countries, with the main focus of the project being the development of novel approaches in phenotyping, mutagenesis and informatics to improve the characterization of mouse models for understanding human molecular physiology and pathology. The current version of EuroPhenome is capturing data from the EUMODIC project as well as the WTSI MGP, HMGU GMC pipeline and the CMHD. EUMODIC is undertaking a primary phenotype assessment of up to 500 mouse mutant lines derived from ES cells developed in the EUCOMM project as well as other lines. Lines showing an interesting phenotype will be subject to a more in depth assessment. EUMODIC is building upon the comprehensive database of standardized phenotyping protocols, called EMPReSS, developed by the EUMORPHIA project. EUMODIC has developed a selection of these screens, called EMPReSSslim, to enable comprehensive, high throughput, primary phenotyping of large numbers of mice. Phenovariants are annotated using a automated pipeline, which assigns a MP term if the mutant data is statistically different to the baseline data. This data is shown in the Phenomap and the mine for a mutant tool. Please note that a statistically significant result and the subsequent MP annotation does not necessarily mean a true phenovariant. There are other factors that could cause this result that have not been accounted for in the analysis. It is the responsibility of the user to download the data and use their expert knowledge or further analysis to decide whether they agree or not. EuroPhenome is primarily based in the bioinformatics group at MRC Harwell. The development of EuroPhenome is in collaboration with the Helmholtz Zentrum Munchen, Germany, the Wellcome Trust Sanger Institute, UK and the Institut Clinique de la Souris, France. | phenotype, gene, mutant mouse strain, inbred mouse strain, annotation, ortholog, high-throughput, phenovariant, disorder, c57bl/6j, c3h/hebfej, balb/cbyj, 129/svpas |
is related to: European Mouse Phenotyping Resource of Standardised Screens is related to: OMIM is related to: Understanding Human Disease Through Mouse Genetics is related to: European Conditional Mouse Mutagenesis Program is related to: European Mouse Phenotyping Resource of Standardised Screens has parent organization: MRC Mammalian Genetics Unit |
European Union FP6 contract LSHG-CT-2006-037188; MRC ; National Genome Research Network |
PMID:19933761 PMID:17905814 |
Open unspecified license, Acknowledgement requested | nif-0000-30535 | SCR_006935 | 2026-02-14 02:01:15 | 19 | ||||||
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AutismKB Resource Report Resource Website 10+ mentions |
AutismKB (RRID:SCR_006937) | AutismKB | data analysis service, analysis service resource, data or information resource, production service resource, service resource, database | Genetic factors contribute significantly to ASD. AutismKB is an evidence-based knowledgebase of Autism spectrum disorder (ASD) genetics. The current version contains 2193 genes (99 syndromic autism related genes and 2135 non-syndromic autism related genes), 4617 Copy Number Variations (CNVs) and 158 linkage regions associated with ASD by one or more of the following six experimental methods: # Genome-Wide Association Studies (GWAS); # Genome-wide CNV studies; # Linkage analysis; # Low-scale genetic association studies; # Expression profiling; # Other low-scale gene studies. Based on a scoring and ranking system, 99 syndromic autism related genes and 383 non-syndromic autism related genes (434 genes in total) were designated as having high confidence. Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 1.0-2.6%. The three core symptoms of ASD are: # impairments in reciprocal social interaction; # communication impairments; # presence of restricted, repetitive and stereotyped patterns of behavior, interests and activities. | gene, copy number variation, linkage region, genome-wide association study, family-based association study, case-control association study, expression profile, blast, syndromic, non-syndromic, snp, vntr, bio.tools, FASEB list |
is listed by: Debian is listed by: bio.tools is related to: Gene Ontology has parent organization: Peking University; Beijing; China |
Autism spectrum disorder, Autism | Merck ; Johnson and Johnson ; Natural Science Foundation of China 31025014; Natural Science Foundation of China 2011CBA01102 |
PMID:22139918 | biotools:autismkb, nlx_151318 | https://bio.tools/autismkb | SCR_006937 | Autism Knowledgebase | 2026-02-14 02:01:24 | 33 | ||||
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LifeDB Resource Report Resource Website 1+ mentions |
LifeDB (RRID:SCR_006899) | LifeDB | data or information resource, image collection, database | Database that integrates large-scale functional genomics assays and manual cDNA annotation with bioinformatics gene expression and protein analysis. LifeDB integrates data regarding full length cDNA clones and data on expression of encoded protein and their subcellular localization on mammalian cell line. LifeDB enables the scientific community to systematically search and select genes, proteins as well as cDNA of interest by specific database identifiers as well as gene name. It enables to visualize cDNA clone and subcellular location of proteins. It also links the results to external biological databases in order to provide a broader functional information. LifeDB also provides an annotation pipeline which facilitates an improved mapping of clones to known human reference transcripts from the RefSeq database and the Ensembl database. An advanced web interface enables the researchers to view the data in a more user friendly manner. Users can search using any one of the following search options available both in Search gene and cDNA clones and Search Sub-cellular locations of human proteins: By Keyword, By gene/transcript identifier, By plate name, By clone name, By cellular location. * The Search genes and cDNA clones results include: Gene Name, Ensemble ID, Genomic Region, Clone name, Plate name, Plate position, Classification class, Synonymous SNP''s, Non- synonymous SNP''s, Number of ambiguous positions, and Alignment with reference genes. * The Search sub-cellular locations of human proteins results include: Subcellular location, Gene Name, Ensemble ID, Clone name, True localization, Images, Start tag and End tag. Every result page has an option to download result data (excluding the microscopy images). On click of ''Download results as CSV-file'' link in the result page the user will be given a choice to open or save result data in form of a CSV (Comma Separated Values) file. Later the CSV file can be easily opened using Excel or OpenOffice. | human, protein, gene, cdna clone, subcellular, open reading frame, functional genomics | has parent organization: German Cancer Research Center | BMBF 01GR0101; BMBF 01GR0420; European Union grant 503438 |
PMID:16381901 PMID:14681468 |
nif-0000-03081 | SCR_006899 | 2026-02-14 02:01:24 | 1 | |||||||
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Minnesota Center for Twin and Family Research Resource Report Resource Website 1+ mentions |
Minnesota Center for Twin and Family Research (RRID:SCR_006948) | MCTFR | portal, data or information resource, research forum portal, disease-related portal, topical portal | Composed of many projects, including the Minnesota Twin Family Study (MTFS) and The Sibling Interaction and Behavior Study (SIBS), this research center seeks to identify genetic and environmental influences on development and psychological traits. Both projects are longitudinal research studies including twins, siblings, and parents. Over 9800 individuals have contributed to these exciting projects! By studying twins and siblings and their families, we can estimate how genes and environment interact to influence character, strengths, vulnerabilities and values. Participants in the MTFS include families with same-sex identical or fraternal twins who were born in Minnesota. The SIBS study is comprised of adoptive and biological siblings and their parents. Most participants partake in day-long visits to the MCTFR, and due to the longitudinal nature of our projects, they return every 3-4 years for follow-up visits. | longitudinal study, clinical study, twin, sibling, parent, longitudinal, gene, environment, adolescent, development, behavior, dna | has parent organization: University of Minnesota Twin Cities; Minnesota; USA | Identical twin, Fraternal twin, Sibling, Parent, Twin | NIH | nlx_151990 | SCR_006948 | SIBS, Minnesota Twin Study, MTFS, Sibbling Interaction and Behavior Study, Minnesota Twin Family Study | 2026-02-14 02:01:15 | 3 | ||||||
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Mouse Genome Databases Resource Report Resource Website 1+ mentions |
Mouse Genome Databases (RRID:SCR_007147) | MGD | organism-related portal, portal, data set, data or information resource, database, topical portal | A mouse-related portal of genomic databases and tables of mouse brain data. Most files are intended for you to download and use on your own personal computer. Most files are available in generic text format or as FileMaker Pro databases. The server provides data extracted and compiled from: The 2000-2001 Mouse Chromosome Committee Reports, Release 15 of the MIT microsatellite map (Oct 1997), The recombinant inbred strain database of R.W. Elliott (1997) and R. W. Williams (2001), and the Map Manager and text format chromosome maps (Apr 2001). * LXS genotype (Excel file): Updated, revised positions for 330 markers genotyped using a panel of 77 LXS strain. * MIT SNP DATABASE ONLINE: Search and sort the MIT Single Nucleotide Polymorphism (SNP) database ONLINE. These data from the MIT-Whitehead SNP release of December 1999. * INTEGRATED MIT-ROCHE SNP DATABASE in EXCEL and TEXT FORMATS (1-3 MB): Original MIT SNPs merged with the new Roche SNPs. The Excel file has been formatted to illustrate SNP haplotypes and genetic contrasts. Both files are intended for statistical analyses of SNPs and can be used to test a method outlined in a paper by Andrew Grupe, Gary Peltz, and colleagues (Science 291: 1915-1918, 2001). The Excel file includes many useful equations and formatting that will help in navigating through this large database and in testing the in silico mapping method. * Use of inbred strains for the study of individual differences in pain related phenotypes in the mouse: Elissa J. Chesler''s 2002 dissertation, discussing issues relevant to the integration of genomic and phenomic data from standard inbred strains including genetic interactions with laboratory environmental conditions and the use of various in silico inbred strain haplotype based mapping algorithms for QTL analysis. * SNP QTL MAPPER in EXCEL format (572 KB, updated January 2002 by Elissa Chesler): This Excel workbook implements the Grupe et al. mapping method and outputs correlation plots. The main spreadsheet allows you to enter your own strain data and compares them to haplotypes. Be very cautious and skeptical when using this spreadsheet and the technique. Read all of the caveates. This excel version of the method was developed by Elissa Chesler. This updated version (Jan 2002) handles missing data. * MIT SNP Database (tab-delimited text format): This file is suitable for manipulation in statistics and spreadsheet programs (752 KB, Updated June 27, 2001). Data have been formatted in a way that allows rapid acquisition of the new data from the Roche Bioscience SNP database. * MIT SNP Database (FileMaker 5 Version): This is a reformatted version of the MIT Single Nucleotide Polymorphism (SNP) database in FileMaker 5 format. You will need a copy of this application to open the file (Mac and Windows; 992 KB. Updated July 13, 2001 by RW). * Gene Mapping and Map Manager Data Sets: Genetic maps of mouse chromosomes. Now includes a 10th generation advanced intercross consisting of 500 animals genetoyped at 340 markers. Lots of older files on recombinant inbred strains. * The Portable Dictionary of the Mouse Genome, 21,039 loci, 17,912,832 bytes. Includes all 1997-98 Chromosome Committee Reports and MIT Release 15. * FullDict.FMP.sit: The Portable Dictionary of the Mouse Genome. This large FileMaker Pro 3.0/4.0 database has been compressed with StuffIt. The Dictionary of the Mouse Genome contains data from the 1997-98 chromosome committee reports and MIT Whitehead SSLP databases (Release 15). The Dictionary contains information for 21,039 loci. File size = 4846 KB. Updated March 19, 1998. * MIT Microsatellite Database ONLINE: A database of MIT microsatellite loci in the mouse. Use this FileMaker Pro database with OurPrimersDB. MITDB is a subset of the Portable Dictionary of the Mouse Genome. ONLINE. Updated July 12, 2001. * MIT Microsatellite Database: A database of MIT microsatellite loci in the mouse. Use this FileMaker Pro database with OurPrimersDB. MITDB is a subset of the Portable Dictionary of the Mouse Genome. File size = 3.0 MB. Updated March 19, 1998. * OurPrimersDB: A small database of primers. Download this database if you are using numerous MIT primers to map genes in mice. This database should be used in combination with the MITDB as one part of a relational database. File size = 149 KB. Updated March 19, 1998. * Empty copy (clone) of the Portable Dictionary in FileMaker Pro 3.0 format. Download this file and import individual chromosome text files from the table into the database. File size = 231 KB. Updated March 19, 1998. * Chromosome Text Files from the Dictionary: The table lists data on gene loci for individual chromosomes. | gene, genetic, chromosome, genotype, inbred mouse strain, pain, phenotype, polygenic, recombinant, trait, genome, genomic, single nucleotide polymorphism, primer, brain, recombinant inbred mouse strain | has parent organization: University of Tennessee Health Science Center; Tennessee; USA | nif-0000-20982 | SCR_007147 | 2026-02-14 02:01:27 | 2 | |||||||||
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Tetraodon Genome Browser Resource Report Resource Website 1+ mentions |
Tetraodon Genome Browser (RRID:SCR_007079) | data or information resource, portal, database, topical portal | The initial objective of Genoscope was to compare the genomic sequences of this fish to that of humans to help in the annotation of human genes and to estimate their number. This strategy is based on the common genetic heritage of the vertebrates: from one species of vertebrate to another, even for those as far apart as a fish and a mammal, the same genes are present for the most part. In the case of the compact genome of Tetraodon, this common complement of genes is contained in a genome eight times smaller than that of humans. Although the length of the exons is similar in these two species, the size of the introns and the intergenic sequences is greatly reduced in this fish. Furthermore, these regions, in contrast to the exons, have diverged completely since the separation of the lineages leading to humans and Tetraodon. The Exofish method, developed at Genoscope, exploits this contrast such that the conserved regions which can be identified by comparing genomic sequences of the two species, correspond only to coding regions. Using preliminary sequencing results of the genome of Tetraodon in the year 2000, Genoscope evaluated the number of human genes at about 30,000, whereas much higher estimations were current. The progress of the annotation of the human genome has since supported the Genoscope hypothesis, with values as low as 22,000 genes and a consensus of around 25,000 genes. The sequencing of the Tetraodon genome at a depth of about 8X, carried out as a collaboration between Genoscope and the Whitehead Institute Center for Genome Research (now the Broad Institute), was finished in 2002, with the production of an assembly covering 90 of the euchromatic region of the genome of the fish. This has permitted the application of Exofish at a larger scale in comparisons with the genome of humans, but also with those of the two other vertebrates sequenced at the time (Takifugu, a fish closely related to Tetraodon, and the mouse). The conserved regions detected in this way have been integrated into the annotation procedure, along with other resources (cDNA sequences from Tetraodon and ab initio predictions). Of the 28,000 genes annotated, some families were examined in detail: selenoproteins, and Type 1 cytokines and their receptors. The comparison of the proteome of Tetraodon with those of mammals has revealed some interesting differences, such as a major diversification of some hormone systems and of the collagen molecules in the fish. A search for transposable elements in the genomic sequences of Tetraodon has also revealed a high diversity (75 types), which contrasts with their scarcity; the small size of the Tetraodon genome is due to the low abundance of these elements, of which some appear to still be active. Another factor in the compactness of the Tetraodon genome, which has been confirmed by annotation, is the reduction in intron size, which approaches a lower limit of 50-60 bp, and which preferentially affects certain genes. The availability of the sequences from the genomes of humans and mice on one hand, and Takifugu and Tetraodon on the other, provide new opportunities for the study of vertebrate evolution. We have shown that the level of neutral evolution is higher in fish than in mammals. The protein sequences of fish also diverge more quickly than those of mammals. A key mechanism in evolution is gene duplication, which we have studied by taking advantage of the anchoring of the majority of the sequences from the assembly on the chromosomes. The result of this study speaks strongly in favor of a whole genome duplication event, very early in the line of ray-finned fish (Actinopterygians). An even stronger evidence came from synteny studies between the genomes of humans and Tetraodon. Using a high-resolution synteny map, we have reconstituted the genome of the vertebrate which predates this duplication - that is, the last common ancestor to all bony vertebrates (most of the vertebrates apart from cartilaginous fish and agnaths like lamprey). This ancestral karyotype contains 12 chromosomes, and the 21 Tetraodon chromosomes derive from it by the whole genome duplication and a surprisingly small number of interchromosomal rearrangements. On the contrary, exchanges between chromosomes have been much more frequent in the lineage that leads to humans. Sponsors: The project was supported by the Consortium National de Recherche en Genomique and the National Human Genome Research Institute. | duplication, element, euchromatic, evolution, exon, fish, gene, genetic, actinopterygians, aganth, ancestor, cartilaginous, cdna, chromosome, coding, collagen, cytokine, diversity, genome, genomic, heritage, hormone, human, interchromossomal, intergenic, intron, karyotype, lineage, mammal, molecule, mouse, nigroviridis, protein, proteome, pufferfish, receptor, region, selenoprotein, sequence, size, specie, synteny, system, takifugu, tetraodon, transposable, vertebrate | nif-0000-20997 | SCR_007079 | TGB | 2026-02-14 02:01:26 | 8 | ||||||||||
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RTPrimerDB- The Real-Time PCR and Probe Database Resource Report Resource Website 10+ mentions |
RTPrimerDB- The Real-Time PCR and Probe Database (RRID:SCR_007106) | RTPrimerDB | data repository, storage service resource, data or information resource, service resource, database | Database for primer and probe sequences used in real-time PCR assays employing popular chemistries (SYBR Green I, Taqman, Hybridization Probes, Molecular Beacon) to prevent time-consuming primer design and experimental optimization, and to introduce a certain level of uniformity and standardization among different laboratories. Researchers are encouraged to submit their validated primer and probe sequence, so that other users can benefit from their expertise. The database can be queried using the official gene name or symbol, Entrez or Ensembl Gene identifier, SNP identifier, or oligonucleotide sequence. Different options make it possible to restrict a query to a particular application (Gene Expression Quantification/Detection, DNA Copy Number Quantification/Detection, SNP Detection, Mutation Analysis, Fusion Gene Quantification/Detection, Chromatin immunoprecipitation (ChIP)), organism (Human, Mouse, Rat, and others) or detection chemistry. | primer, probe, sequence, real-time pcr, gene, assay, real-time pcr assay, FASEB list |
is listed by: OMICtools has parent organization: Ghent University; Ghent; Belgium |
PMID:18948285 PMID:16381959 PMID:12519963 |
Public, The community can contribute to this resource | nif-0000-03431, OMICS_02322 | SCR_007106 | 2026-02-14 02:01:28 | 48 | |||||||
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Chromosome 7 Annotation Project Resource Report Resource Website 10+ mentions |
Chromosome 7 Annotation Project (RRID:SCR_007134) | Chromosome 7 Annotation Project | data repository, storage service resource, data or information resource, service resource, database | Database containing the DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented; the most up to date collation of sequence, gene, and other annotations from all databases (eg. Celera published, NCBI, Ensembl, RIKEN, UCSC) as well as unpublished data. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. The objective of this project is to generate a comprehensive description of human chromosome 7 to facilitate biological discovery, disease gene research and medical genetic applications. There are over 360 disease-associated genes or loci on chromosome 7. A major challenge ahead will be to represent chromosome alterations, variants, and polymorphisms and their related phenotypes (or lack thereof), in an accessible way. In addition to being a primary data source, this site serves as a weighing station for testing community ideas and information to produce highly curated data to be submitted to other databases such as NCBI, Ensembl, and UCSC. Therefore, any useful data submitted will be curated and shown in this database. All Chromosome 7 genomic clones (cosmids, BACs, YACs) listed in GBrowser and in other data tables are freely distributed. | duplication, gene expression, family, fish, gene, gene annotation, genome, breakpoint, chromosome, chromosome 7, clinical, deletion, disease, dna sequence, human, insertion, inversion, polymorphism, rearrangement, segmental duplication, snp, translocation, annotation, data analysis service, blat, cosmid, bac, yac, biomaterial supply resource, malignant, non malignant, bio.tools |
is listed by: One Mind Biospecimen Bank Listing is listed by: Debian is listed by: bio.tools |
PMID:12690205 | Free, (Genomic clones) | nif-0000-03550, biotools:chr7, r3d100012136 | https://bio.tools/chr7 https://doi.org/10.17616/R3VP9V |
SCR_007134 | The Chromosome 7 Annotation Project, Chromosome 7 Annotation Project | 2026-02-14 02:01:18 | 13 | |||||
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Genes to Cognition: Neuroscience Research Programme Resource Report Resource Website 10+ mentions |
Genes to Cognition: Neuroscience Research Programme (RRID:SCR_007121) | data or information resource, portal, topical portal | A neuroscience research program that studies genes, the brain and behavior in an integrated manner, established to elucidate the molecular mechanisms of learning and memory, and shed light on the pathogenesis of disorders of cognition. Central to G2C investigations is the NMDA receptor complex (NRC/MASC), that is found at the synapses in the central nervous system which constitute the functional connections between neurons. Changes in the receptor and associated components are thought to be in a large part responsible for the phenomenon of synaptic plasticity, that may underlie learning and memory. G2C is addressing the function of synapse proteins using large scale approaches combining genomics, proteomics and genetic methods with electrophysiological and behavioral studies. This is incorporated with computational models of the organization of molecular networks at the synapse. These combined approaches provide a powerful and unique opportunity to understand the mechanisms of disease genes in behavior and brain pathology as well as provide fundamental insights into the complexity of the human brain. Additionally, Genes to Cognition makes available its biological resources, including gene-targeting vectors, ES cell lines, antibodies, and transgenic mice, generated for its phenotyping pipeline. The resources are freely-available to interested researchers. | cognition, gene, neuroscience |
is listed by: 3DVC has parent organization: Wellcome Trust Sanger Institute; Hinxton; United Kingdom |
Wellcome Trust ; MRC ; BBSRC ; Gatsby Charitable Foundation ; Human Frontiers Science Programme ; European Union ; Framework Programme ; EPSRC ; NSF |
nif-0000-10235 | SCR_007121 | G2C Neuroscience Research Program, G2C Research Programme, Genes to Cognition: Neuroscience Research Program, Genes to Cognition, G2C, Genes to Cognition - Neuroscience Research Programme, Genes to Cognition-Neuroscience Research Programme, G2C Research Program | 2026-02-14 02:01:18 | 19 | ||||||||
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National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) Resource Report Resource Website 50+ mentions |
National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) (RRID:SCR_007314) | NIAGADS | data repository, storage service resource, data set, data or information resource, service resource, database | National genetics data repository facilitating access to genotypic and phenotypic data for Alzheimer's disease (AD). Data include GWAS, whole genome (WGS) and whole exome (WES), expression, RNA Seq, and CHIP Seq analyses. Data for the Alzheimer’s Disease Sequencing Project (ADSP) are available through a partnership with dbGaP (ADSP at dbGaP). Repository for many types of data generated from NIA supported grants and/or NIA funded biological samples. Data are deposited at NIAGADS or NIA-approved sites. Genetic Data and associated Phenotypic Data are available to qualified investigators in scientific community for secondary analysis. | genetics, alzheimer's disease, genome-wide association study, neurodegenerative disease, genotype, phenotype, late adult human, dna marker, dna sequencing, rna expression, rna, dna, gene |
is recommended by: National Library of Medicine is listed by: NeuroImaging Tools and Resources Collaboratory (NITRC) is related to: NIH Data Sharing Repositories is related to: Allen Institute for Brain Science has parent organization: University of Pennsylvania Perelman School of Medicine; Pennsylvania; USA |
Alzheimer's disease, Late-onset Alzheimer's disease, Aging | NIH Blueprint for Neuroscience Research ; NIA U24 AG041689; NIA 3U24AG041689 |
nif-0000-00179 | http://www.nitrc.org/projects/niagads http://alois.med.upenn.edu/niagads/ | SCR_007314 | National Institute on Aging, NIA Genetics of Alzheimer's Disease Data Storage Site, Genetics of Alzheimer’s Disease Data Storage Site | 2026-02-14 02:01:24 | 60 | |||||
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Biological General Repository for Interaction Datasets (BioGRID) Resource Report Resource Website 1000+ mentions |
Biological General Repository for Interaction Datasets (BioGRID) (RRID:SCR_007393) | BioGRID | data or information resource, database | Curated protein-protein and genetic interaction repository of raw protein and genetic interactions from major model organism species, with data compiled through comprehensive curation efforts. | budding yeast, fission yeast, protein, gene, protein interaction, genetic interaction, model organism, interaction, dataset, gene annotation, phenotype, orthologous interaction, yeast, cellular interaction network, physical interaction, protein-peptide, protein-rna, protein-protein interaction, genetics, publication, raw protein, genetic interaction, web service, pathway, network, biology, gene mapping, statistics, bio.tools, FASEB list |
is used by: NIF Data Federation is recommended by: National Library of Medicine is recommended by: NIDDK Information Network (dkNET) is recommended by: NIDDK - National Institute of Diabetes and Digestive and Kidney Diseases is listed by: re3data.org is listed by: OMICtools is listed by: DataCite is listed by: NIH Data Sharing Repositories is listed by: bio.tools is listed by: Debian is related to: TissueNet - The Database of Human Tissue Protein-Protein Interactions is related to: Pathway Commons is related to: Cytoscape is related to: Interaction Reference Index is related to: ConsensusPathDB is related to: FlyMine is related to: IMEx - The International Molecular Exchange Consortium is related to: Integrated Molecular Interaction Database is related to: PSICQUIC Registry is related to: PSI-MI is related to: NIH Data Sharing Repositories is related to: Agile Protein Interactomes DataServer is related to: Integrated Manually Extracted Annotation has parent organization: Princeton University; New Jersey; USA has parent organization: University of Edinburgh; Scotland; United Kingdom has parent organization: University of Montreal; Quebec; Canada works with: IMEx - The International Molecular Exchange Consortium |
NCRR R01 RR024031; NHGRI HG02223; Canadian Institutes of Health Research ; BBSRC ; NIH Office of the Director R24 OD011194 |
PMID:23203989 PMID:21071413 PMID:16381927 PMID:12620108 |
Free, Freely available | nif-0000-00432, r3d100010350, OMICS_01901, biotools:the_grid | https://orip.nih.gov/comparative-medicine/programs/genetic-biological-and-information-resources https://bio.tools/the_grid https://doi.org/10.17616/R34C7G |
SCR_007393 | , BioGRID, Biological General Repository for Interaction Datasets | 2026-02-14 02:01:30 | 2554 | ||||
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Genetics of Learning Disability Study Resource Report Resource Website 1+ mentions |
Genetics of Learning Disability Study (RRID:SCR_007266) | data or information resource, portal, topical portal | The Genetics of Learning Disability (GOLD) Study is aimed to identify the genes on the X chromosome that contribute to significant intellectual disability and to lead the way towards greater understanding of the mechanisms by which intellectual disability occurs. Ultimately the aim is to improve the services available to affected families. Sponsors: The work was supported by the European Community''s Seventh Framework Programme-the GEN2PHEN Project, the New South Wales Department of Health, the Australian NHMRC, the SMILE foundation, the WCH Foundation, D. Harwood, EU grant QLG3-CT- 2002-01810 (EURO-MRX), US National Institutes of Health (HD26202) to C.E.S., the South Carolina Department of Disabilities and Special Needs (SCDDSN), Action Medical Research and the Wellcome Trust. | study, genetics, learning, disability, gene | has parent organization: University of Cambridge; Cambridge; United Kingdom | nif-0000-30285 | SCR_007266 | GOLD Study | 2026-02-14 02:01:20 | 6 | |||||||||
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Electronic Cell Project Resource Report Resource Website 10+ mentions |
Electronic Cell Project (RRID:SCR_007381) | software resource, simulation software, modeling software, software application | Software platform, general technologies and theoretical supports for computational biology with the grand aim to make precise whole cell simulation at the molecular level possible.Technologies include formalisms and techniques, including technologies to predict, obtain or estimate parameters such as reaction rates and concentrations of molecules in the cell. The E-Cell System is a software platform for modeling, simulation and analysis of complex, heterogeneous and multi-scale system like the cell. The E-Cell Project is open to anyone who shares the view with u that development of cell simulation technology, and, even if such ultimate goal might not be within ten years of reach yet, solving various conceptual, computational and experimental problems that will continue to arise in the course of pursuing it, may have a multitude of eminent scientific, medical and engineering impacts on our society. | gene, protein, ontology, binary executable; software development tool, cell | is listed by: Debian | nif-0000-00378 | https://sources.debian.org/src/ecell/ | SCR_007381 | E-Cell | 2026-02-14 02:01:22 | 15 | ||||||||
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Center for Inherited Disease Research Resource Report Resource Website 100+ mentions |
Center for Inherited Disease Research (RRID:SCR_007339) | CIDR | training service resource, analysis service resource, resource, material analysis service, production service resource, biomaterial analysis service, service resource, data computation service | Next generation sequencing and genotyping services provided to investigators working to discover genes that contribute to disease. On-site statistical geneticists provide insight into analysis issues as they relate to study design, data production and quality control. In addition, CIDR has a consulting agreement with the University of Washington Genetics Coordinating Center (GCC) to provide statistical and analytical support, most predominantly in the areas of GWAS data cleaning and methods development. Completed studies encompass over 175 phenotypes across 530 projects and 620,000 samples. The impact is evidenced by over 380 peer-reviewed papers published in 100 journals. Three pathways exist to access the CIDR genotyping facility: * NIH CIDR Program: The CIDR contract is funded by 14 NIH Institutes and provides genotyping and statistical genetic services to investigators approved for access through competitive peer review. An application is required for projects supported by the NIH CIDR Program. * The HTS Facility: The High Throughput Sequencing Facility, part of the Johns Hopkins Genetic Resources Core Facility, provides next generation sequencing services to internal JHU investigators and external scientists on a fee-for-service basis. * The JHU SNP Center: The SNP Center, part of the Johns Hopkins Genetic Resources Core Facility, provides genotyping to internal JHU investigators and external scientists on a fee-for-service basis. Data computation service is included to cover the statistical genetics services provided for investigators seeking to identify genes that contribute to human disease. Human Genotyping Services include SNP Genome Wide Association Studies, SNP Linkage Scans, Custom SNP Studies, Cancer Panel, MHC Panels, and Methylation Profiling. Mouse Genotyping Services include SNP Scans and Custom SNP Studies. | gene, genome, array, custom, dna, genome wide association study, genotyping, genotyping service, linkage scan, methylation profiling, hereditary disease, single gene disorder, snp, statistical genetics, whole genome, whole exome, exome sequencing, high throughput sequencing, single nucleotide polymorphism, sequencing, disease |
is listed by: NIDDK Information Network (dkNET) has parent organization: Johns Hopkins University; Maryland; USA |
Aging | NHGRI ; NCI ; NEI ; NIA ; NIAAA ; NIAMS ; NICHD ; NIDA ; NIDCD ; NIDCR ; NIDDK ; NIEHS ; NIMH ; NINDS ; NHGRI N01-HG-65403; US Department of Health and Human Services HHSN268200782096C; S Department of Health and Human Services HHSN268201100011I; S Department of Health and Human Services HHSN268201200008I; NHGRI U01HG004438; NHGRI U54HG006542 |
nif-0000-00223 | SCR_007339 | CIDR - Center for Inherited Disease Research | 2026-02-14 02:01:21 | 206 | ||||||
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CardioGenomics Resource Report Resource Website 1+ mentions |
CardioGenomics (RRID:SCR_007248) | CardioGenomics | data or information resource, portal, topical portal | The primary goal of the CardioGenomics PGA is to begin to link genes to structure, function, dysfunction and structural abnormalities of the cardiovascular system caused by clinically relevant genetic and environmental stimuli. The principal biological theme to be pursued is how the transcriptional network of the cardiovascular system responds to genetic and environmental stresses to maintain normal function and structure, and how this network is altered in disease. This PGA will generate a high quality, comprehensive data set for the functional genomics of structural and functional adaptation of the cardiovascular system by integrating expression data from animal models and human tissue samples, mutation screening of candidate genes in patients, and DNA polymorphisms in a well characterized general population. Such a data set will serve as a benchmark for future basic, clinical, and pharmacogenomic studies. Training and education are also a key focus of the CardioGenomics PGA. In addition to ongoing journal clubs and seminars, the PGA will be sponsoring symposia at major conferences, and developing workshops related to the areas of focus of this PGA. Information regarding upcoming events can be found in the Events section of this site, and information about training and education opportunities sponsored by CardioGenomics can be found on the Teaching and Education page. The CardioGenomics project came to a close in 2005. This server, cardiogenomics.med.harvard.edu, remains online in order to continue to distribute data that was generated by investigators under the auspices of the CardioGenomics Program for Genomic Applications (PGA). :Sponsors: This resource is supported by The National Heart, Lung and Blood Institute (NHLBI) of the NIH., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025. | genomics, clinical, genetic, environmental, stimulus, cardiovascular, disease, data, expression, gene, dna, polymorphism, population, pharmacogenomic, training, education | has parent organization: Harvard University; Cambridge; United States | THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-30296 | http://www.cardiogenomics.org | SCR_007248 | The CardioGenomics Project | 2026-02-14 02:01:28 | 6 | ||||||
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eMERGE Network: electronic Medical Records and Genomics Resource Report Resource Website 1+ mentions |
eMERGE Network: electronic Medical Records and Genomics (RRID:SCR_007428) | eMERGE | data or information resource, portal, topical portal | A 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 record |
is related to: PheKB is related to: NCBI database of Genotypes and Phenotypes (dbGap) is related to: PheWAS Catalog has parent organization: Vanderbilt University; Tennessee; USA |
Aging | NIGMS ; NHGRI |
Available to the research community | nif-0000-00539 | SCR_007428 | eMERGE Network: electronic Medical Records & Genomics - A consortium of biorepositories linked to electronic medical records data for conducting genomics studies, eMERGE Network: electronic Medical Records Genomics, eMERGE Network: electronic Medical Records & Genomics, eMERGE Network, electronic Medical Records & Genomics, The eMERGE Network: electronic Medical Records & Genomics | 2026-02-14 02:01:32 | 2 | |||||
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aneurIST Resource Report Resource Website 1+ mentions |
aneurIST (RRID:SCR_007427) | aneurIST | disease-related portal, data or information resource, portal, topical portal | Project focused on cerebral aneurysms and provides integrated decision support system to assess risk of aneurysm rupture in patients and to optimize their treatments. IT infrastructure has been developeded for management and processing of vast amount of heterogeneous data acquired during diagnosis. | gene, genetic, adult, cerebral aneurysm, cerebral brain hemorrhage, cerebral hemorrhage, cerebral parenchymal hemorrhage, cerebral hemorrhage, clinical, genomic, human, intracerebral hemorrhage, intracranial aneurysm, subarachnoid hemorrhage, risk, aneurysm rupture, patient, treatment, infrastructure, platform, genomics, disease, personalized risk assessment, bioinformatics, clinical, data management, data integration, data processing, software tool, cerebrum | has parent organization: Pompeu Fabra University; Barcelona; Spain | Cerebral aneurysm, Subarachnoid hemorrhage, Aging | European Union ; Sixth FPPriority 2 of the Information Society Technologies IST |
nif-0000-00538 | http://www.cilab.upf.edu/aneurist1/ | SCR_007427 | aneurIST - Integrated Biomedical Informatics for the Management of Cerebral Aneurysms, (at)neurIST, (at)neurIST - Integrated Biomedical Informatics for the Management of Cerebral Aneurysms | 2026-02-14 02:01:26 | 3 |
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