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| Resource Name | Proper Citation | Abbreviations | Resource Type |
Description |
Keywords | Resource Relationships | |||||||||||||
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HGVS Locus Specific Mutation Databases Resource Report Resource Website 100+ mentions |
HGVS Locus Specific Mutation Databases (RRID:SCR_006730) | LSMD | database, data or information resource | Database of Locus Specific Mutation Databases. Fields include HGNC Gene symbol / OMIM No., Database name / Internet address, and Curators. If you wish to add an LSDB please go to the LSDB Submission Page. | mutation, locus, registry, catalog, genome variation, gene |
has parent organization: Human Genome Variation Society is parent organization of: Albinism database |
The community can contribute to this resource | nlx_153903 | SCR_006730 | Locus Specific Mutation Databases | 2026-08-06 09:26:40 | 138 | |||||||
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HIstome: The Histone Infobase Resource Report Resource Website 1+ mentions |
HIstome: The Histone Infobase (RRID:SCR_006972) | HIstome | database, data or information resource | Database of human histone variants, sites of their post-translational modifications and various histone modifying enzymes. The database covers 5 types of histones, 8 types of their post-translational modifications and 13 classes of modifying enzymes. Many data fields are hyperlinked to other databases (e.g. UnprotKB/Swiss-Prot, HGNC, OMIM, Unigene etc.). Additionally, this database also provides sequences of promoter regions (-700 TSS +300) for all gene entries. These sequences were extracted from the UCSC genome browser. Sites of post-translational modifications of histones were manually searched from PubMed listed literature. Current version contains information for about ~50 histone proteins and ~150 histone modifying enzymes. HIstome is a combined effort of researchers from two institutions, Advanced Center for Treatment, Research and Education in Cancer (ACTREC), Navi Mumbai and Center of Excellence in Epigenetics (CoEE), Indian Institute of Science Education and Research (IISER), Pune. | histone, protein, enzyme, modifying enzyme, post-translational modification, variant, promoter region, gene, epigenetic regulation, india, bio.tools |
is listed by: re3data.org is listed by: Debian is listed by: bio.tools has parent organization: ACTREC - Advanced Centre for Treatment Research and Education in Cancer |
Cancer | ACTREuropean Union - Advanced Centre for Treatment Research and Education in Cancer ; Government of India |
PMID:22140112 | Free, Public, Acknowledgement requested | biotools:histome, r3d100010977, nlx_151419 | http://www.actrec.gov.in/histome/, https://bio.tools/histome, https://doi.org/10.17616/R3RD0R | http://www.histome.net/ | SCR_006972 | 2026-08-06 09:26:43 | 1 | |||
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Schizophrenia Research Forum: Published Candidate Genes for Schizophrenia Resource Report Resource Website 50+ mentions |
Schizophrenia Research Forum: Published Candidate Genes for Schizophrenia (RRID:SCR_006938) | SZGene Database, SchizophreniaGene Database, SZGene(SchizophreniaGene): Field Synopsis of Genetic Association Studies in SZ, SZGene | database, data or information resource | The SZGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in schizophrenia. In addition, hundreds of up-to-date meta-analyses are available for all eligible polymorphisms with sufficient data. Eligible publications are identified following systematic searches of scientific literature databases, as well as the table of contents of journals in genetics and psychiatry. The database can be searched either by a variety of dropdown menus or by specific keywords. For each gene, summary overviews are provided displaying key characteristics for each publication, including links to genotype distributions of the polymorphisms studied, random-effects allelic meta-analyses, and funnel plots for an assessment of publication bias. | funnel plot, gene, genetic association, genetics, allelic, genotype, meta-analysis, phenotype, polymorphism, psychiatry, schizophrenia, FASEB list | has parent organization: Schizophrenia Research Forum | NARSAD ; Mental Health Research Association ; E.U. European Social Fund ; Greek Ministry of Development ; General Secretariat for Research and Technology |
PMID:18583979 | nif-0000-10420 | SCR_006938 | SZGene, SZGene(SchizophreniaGene): Field Synopsis of Genetic Association Studies in SZ, SZGene Database, SchizophreniaGene Database | 2026-08-06 09:26:44 | 63 | ||||||
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Database of Arabidopsis Transcription Factors Resource Report Resource Website 10+ mentions |
Database of Arabidopsis Transcription Factors (RRID:SCR_007101) | DATF | database, data or information resource | Database that collects all arabidopsis transcription factors (totally 1922 Loci; 2290 Gene Models) and classifies them into 64 families. It uses not only locus (gene), but also gene model (transcript, protein) and the detail information is for each gene model not for locus. It adds multiple alignment of the DNA-binding domain of each family, Neighbor-Joining phylogenetic tree of each family, the GO annotation, homolog with the Database of Rice Transcription Factors (DRTF). It also keeps old information items such as the unique cloned and sequenced information of about 1200 transcription factors, protein domains, 3D structure information with BLAST hits against PDB, predicted Nuclear Location Signals, UniGene information, as well as links to literature reference. | gene, alignment, arabidopsis, binding, clone, dna, domain, locus, phylogenetic tree, transcription, chromosome, transcription factor, blast, family, bio.tools, FASEB list |
is listed by: OMICtools is listed by: Debian is listed by: bio.tools has parent organization: Peking University; Beijing; China |
State Key Laboratory of Protein and Plant Gene Research ; National Natural Science Foundation of China 31470330; China 863 Programs 2006AA02Z334; China Postdoctoral Science Foundation Grant 2014M560017 |
PMID:15731212 | Free | nif-0000-21112, OMICS_00551, biotools:datf | https://bio.tools/datf | SCR_007101 | 2026-08-06 09:26:47 | 36 | |||||
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Epilepsy Genetic Association Database Resource Report Resource Website 1+ mentions |
Epilepsy Genetic Association Database (RRID:SCR_006840) | database, data or information resource | The Epilepsy Genetic Association Database (epiGAD) is an online repository of data relating to genetic association studies in the field of epilepsy. It summarizes the results of both published and unpublished studies, and is intended as a tool for researchers in the field to keep abreast of recent studies, providing a bird''s eye view of this research area. The goal of epiGAD is to collate all association studies in epilepsy in order to help researchers in this area identify all the available gene-disease associations. Finally, by including unpublished studies, it hopes to reduce the problem of publication bias and provide more accurate data for future meta-analyses. It is also hoped that epiGAD will foster collaboration between the different epilepsy genetics groups around the world, and faciliate formation of a network of investigators in epilepsy genetics. There are 4 databases within epiGAD: - the susceptibility genes database - the epilepsy pharmacogenetics database - the meta-analysis database - the genome-wide association studies (GWAS) database The susceptibility genes database compiles all studies related to putative epilepsy susceptibility genes (eg. interleukin-1-beta in TLE), while the pharmacogenetics studies in epilepsy (eg. ABCB1 studies) are stored in ''phamacogenetics''. The meta-analysis database compiles all existing published epilepsy genetic meta-analyses, whether for susceptibility genes, or pharmacogenetics. The GWAS database is currently empty, but will be filled once GWAS are published. Sponsors: The epiGAD website is supported by the ILAE Genetics Commission. | epilepsy, gene, genome, genetic, bias, disease, interleukin-1-beta, meta-analysis, pharmacogenetic, pharmacogenetics, published, repository, research, researcher, studies, study, temporal lobe epilepsy (tle), tool, unpublished | nif-0000-10221 | SCR_006840 | epiGAD | 2026-08-06 09:26:42 | 5 | ||||||||||
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CRCView Resource Report Resource Website |
CRCView (RRID:SCR_007092) | CRCView | data analysis service, production service resource, analysis service resource, service resource | Web-based microarray data analysis and visualization system powered by CRC, or Chinese Restaurant cluster, a Dirichlet process model-based clustering algorithm recently developed by Dr. Steve Qin. It also incorporates several gene expression analysis programs from Bioconductor, including GOStats, genefilter, and Heatplus. CRCView also installs from the Bioconductor system 78 annotation libraries of microarray chips for human (31), mouse (24), rat (14), zebrafish (1), chicken (1), Drosophila (3), Arabidopsis (2), Caenorhabditis elegans (1), and Xenopus Laevis (1). CRCView allows flexible input data format, automated model-based CRC clustering analysis, rich graphical illustration, and integrated Gene Ontology (GO)-based gene enrichment for efficient annotation and interpretation of clustering results. CRC has the following features comparing to other clustering tools: 1) able to infer number of clusters, 2) able to cluster genes displaying time-shifted and/or inverted correlations, 3) able to tolerate missing genotype data and 4) provide confidence measure for clusters generated. You need to register for an account in the system to store your data and analyses. The data and results can be visited again anytime you log in. | microarray, gene expression, cluster, gene, expression profile, data repository, bio.tools |
is listed by: bio.tools is listed by: Debian is related to: Bioconductor is related to: Gene Ontology has parent organization: University of Michigan; Ann Arbor; USA |
University of Michigan; Michigan; USA ; Institutional Fund ; NIH U013422; NIAID 1R21AI057875-01 |
PMID:17485426 | Registration required | biotools:crcview, nlx_99864 | https://bio.tools/crcview | http://helab.bioinformatics.med.umich.edu/crcview/ | SCR_007092 | Chinese Restaurant ClusterView | 2026-08-06 09:26:45 | 0 | |||
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FunSpec Resource Report Resource Website 50+ mentions |
FunSpec (RRID:SCR_006952) | FunSpec | data analysis service, production service resource, analysis service resource, service resource | FunSpec is a web-based tool for statistical evaluation of groups of genes and proteins (e.g. co-regulated genes, protein complexes, genetic interactors) with respect to existing annotations, including GO terms. FunSpec (an acronym for Functional Specification) inputs a list of yeast gene names, and outputs a summary of functional classes, cellular localizations, protein complexes, etc. that are enriched in the list. The classes and categories evaluated were downloaded from the MIPS Database and the GO Database . In addition, many published datasets have been compiled to evaluate enrichment against. Hypertext links to the publications are given. The p-values, calculated using the hypergeometric distribution, represent the probability that the intersection of given list with any given functional category occurs by chance. The Bonferroni-correction divides the p-value threshold, that would be deemed significant for an individual test, by the number of tests conducted and thus accounts for spurious significance due to multiple testing over the categories of a database. After the Bonferroni correction, only those categories are displayed for which the chance probability of enrichment is lower than: p-value/#CD where #CD is the number of categories in the selected database. Without the Bonferroni Correction, all categories are displayed for which the same probability of enrichment is lower than: p-value threshold in an individual test Note that many genes are contained in many categories, especially in the MIPS database (which are hierarchical) and that this can create biases for which FunSpec currently makes no compensation. Also the databases are treated as independent from one another, which is really not the case, and each is searched seperately, which may not be optimal for statistical calculations. Nonetheless, we find it useful for sifting through the results of clustering analysis, TAP pulldowns, etc. Platform: Online tool | gene, protein, annotation, gene ontology, gene expression, clustering, prediction, statistical analysis, functional class, cellular localization, protein complex, yeast, FASEB list |
is listed by: Gene Ontology Tools is related to: Gene Ontology is related to: CYGD - Comprehensive Yeast Genome Database has parent organization: University of Toronto; Ontario; Canada |
Genome Canada ; CIHR ; University of Toronto Connaught Foundation |
PMID:12431279 | nlx_149246 | SCR_006952 | Functional Specification | 2026-08-06 09:26:43 | 87 | ||||||
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Tetraodon nigroviridis Database Resource Report Resource Website |
Tetraodon nigroviridis Database (RRID:SCR_007123) | database, data or information resource | This database have been funded by the National Human Genome Research Institute (NHGRI) to produce shotgun sequence of the Tetraodon nigriviridis genome. The strategy involves Whole Genome Shotgun (WGS) sequencing, in which sequence from the entire genome is generated. Whole genome shotgun libraries were prepared from Tetraodon genomic DNA obtained from the laboratory of Jean Weissenbach at Genoscope. Additional sequence data of approximately 2.5X coverage of Tetraodon has also been generated by Genoscope in plasmid and BAC end reads. Broad and Genoscope intend to pool their data and generate whole genome assemblies. Tetraodon nigroviridis is a freshwater pufferfish of the order Tetraodontiformes and lives in the rivers and estuaries of Indonesia, Malaysia and India. This species is 20-30 million years distant from Fugu rubripes, a marine pufferfish from the same family. The gene repertoire of T. nigroviridis is very similar to that of other vertebrates. However, its relatively small genome of 385 Mb is eight times more compact than that of human, mostly because intergenic and intronic sequences are reduced in size compared to other vertebrate genomes. These genome characteristics along with the large evolutionary distance between bony fish and mammals make Tetraodon a compact vertebrate reference genome - a powerful tool for comparative genetics and for quick and reliable identification of human genes. | estruary, evolutionary, fish, freshwater, fugu rubripes, gene, genetic, bac, bony, distance, dna, genome, genomic, human, intergenic, intronic, nigriviridis, plasmid, pufferfish, river, sequence, sequencing, shotgun, specie, tetraodon, tetraodontiformes, vertebrate | nif-0000-20998 | SCR_007123 | TND | 2026-08-06 09:26:48 | 0 | ||||||||||
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Public Expression Profiling Resource Resource Report Resource Website 10+ mentions |
Public Expression Profiling Resource (RRID:SCR_007274) | PEPR | database, data or information resource | An experiment in web-database access to large multi-dimensional data sets using a standardized experimental platform to determine if the larger scientific community can be given simple, intuitive, and user-friendly web-based access to large microarray data sets. All data in PEPR is also available via NCBI GEO. The structure and goals of PEPR differ from other mRNA expression profiling databases in a number of important ways. * The experimental platform in PEPR is standardized, and is an Affymetrix - only database. All microarrays available in the PEPR web database should ascribe to quality control and standard operating procedures. A recent publication has described the QC/SOP criteria utilized in PEPR profiles ( The Tumor Analysis Best Practices Working Group 2004 ). * PEPR permits gene-based queries of large Affymetrix array data sets without any specialized software. For example, a number of large time series projects are available within PEPR, containing 40-60 microarrays, yet these can be simply queried via a dynamic web interface with no prior knowledge of microarray data analysis. * Projects in PEPR originate from scientists world-wide, but all data has been generated by the Research Center for Genetic Medicine, Children''''s National Medical Center, Washington DC. Future developments of PEPR will allow remote entry of Affymetrix data ascribing to the same QC/SOP protocols. They have previously described an initial implementation of PEPR, and a dynamic web-queried time series graphical interface ( Chen et al. 2004 ). A publication showing the utility of PEPR for pharmacodynamic data has recently been published ( Almon et al. 2003 ). | microarray, expression profiling, affymetrix, metadata standard, gene, time series, data sharing, visualization, data mining, platform, blood, cell, cancer, bone, brain, eye, gut, heart, kidney, liver, lung, muscle, spinal cord, spleen, analysis |
is listed by: OMICtools is related to: Gene Expression Omnibus |
NINDS ; United States Department of Defense ; NHGRI ; NHLBI |
PMID:14681485 PMID:14596642 |
Public, Account required, (to download, For the analysis and visualization tools), The community can contribute to this resource | nif-0000-00014, OMICS_00776 | SCR_007274 | 2026-08-06 09:26:48 | 16 | ||||||
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BioThesaurus Resource Report Resource Website 1+ mentions |
BioThesaurus (RRID:SCR_007566) | database, data or information resource | BioThesaurus is a web-based system designed to map a comprehensive collection of protein and gene names to UniProt Knowledgebase protein entries. It covers all UniProtKB protein entries, and consists of several millions of names extracted from multiple resources based on database cross-references in iProClass. The web site allows the retrieval of synonymous names of given protein entries and the identification of ambiguous names shared by multiple proteins. Searches can be done on protein/gene name, organism, or unique identifier. | gene, protein, protein classification |
is used by: Smart Dictionary Lookup has parent organization: Georgetown University; Washington D.C.; USA |
nif-0000-02612 | SCR_007566 | BioThesaurus | 2026-08-06 09:26:58 | 4 | |||||||||
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High Quality SNP Database Resource Report Resource Website 1+ mentions |
High Quality SNP Database (RRID:SCR_007230) | HQSNP DB | database, data or information resource | This is the HQSNP DB (high-quality SNP database) developed by CHG bioinformatics group. The high-quality SNP is defined as a SNP having allele frequency or genotyping data. The majority of the HQSNPs come from HapMap, others come from JSNP (Japanese SNP database), TSC (The SNP Consortium), Affymetrix 120K SNP, and Perlegen SNP. There are four kinds of SNP search you can do: * Get SNPs by dbSNP rs#: Choose this search if you have already selected a list of SNPs and you just want to get the SNP information. The program will generate a Excel file containing the SNP flanking sequence, variation, quality, function, etc. In the Excel file, there are 10 highlighted fields. You can send only those highlighted information to Illumina to get SNP pre-score. (The same fields are presented in other types of searches as well.) * Get gene SNPs by gene names: Choose this search if you have a list of gene names and you want to get the SNP information in these genes. The gene name can be official gene symbol, Ensembl gene ID, RefSeq accession ID, LocusLink number, etc. * Get gene SNPs by genome regions: Choose this search if you have a list of genome regions and you want to get all gene SNP information in these regions. The software will find all the Ensembl genes in the regions and find SNPs associated to each Ensembl gene. * Get genome scan SNPs by genome regions: Choose this search if you have a list of genome regions and you want to get evenly spaced SNPs in these regions. A SNP selection tool (SNPselector) was built upon HQSNP. It took snp ID list, gene name list, or genome region list as input and searched SNPs for genome scan or gene assoctiation study. It could take an optional ABI SNP file (exported from ABI SNP search web page) as input for checking whether the candidate SNP is available from ABI. It could also take an optional Illumina SNP pre-score file as input to select SNP for Illumina SNP assay. It generated results sorted by tag SNP in LD block, SNP quality, SNP function, SNP regulatory potential, and SNP mutation risk. SNPselector is now retired from public use (as of September 30, 2010). | snp, genotyping, data, allele, bioinformatics, genome, study, gene | has parent organization: Duke University; North Carolina; USA | nif-0000-30254 | SCR_007230 | SNPselector and High Quality SNP Database, CHG DAS Data | 2026-08-06 09:26:50 | 3 | ||||||||
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Mammalian Degradome Database Resource Report Resource Website 10+ mentions |
Mammalian Degradome Database (RRID:SCR_007624) | Degradome Database | database, data or information resource | A database of human, chimpanzee, mouse, and rat proteases and protease inhibitors, as well as as the growing number of hereditary diseases caused by mutations in protease genes. Analysis of the human and mouse genomes has allowed us to annotate 581 human, 580 chimpanzee, 667 mouse, and 655 rat protease genes. Proteases are classified in five different classes according to their mechanism of catalysis. Proteases are a diverse and important group of enzymes representing >2% of the human, chimpanzee, mouse and rat genomes. This group of enzymes is implicated in numerous physiological processes. The importance of proteases is illustrated by the existence of 99 different hereditary diseases due to mutations in protease genes. Furthermore, proteases have been implicated in multiple human pathologies, including vascular diseases, rheumatoid arthritis, neurodegenerative processes, and cancer. During the last ten years, our laboratory has identified and characterized more than 60 human protease genes. Due to the importance of proteolytic enzymes in human physiology and pathology, we have recently introduced the concept of Degradome, as the complete repertoire of proteases expressed by a tissue or organism. Thanks to the recent completion of the human, chimpanzee, mouse, and rat genome sequencing projects, we were able to analyze and compare for the first time the complete protease repertoire in those mammalian organisms, as well as the complement of protease inhibitor genes. This webpage also contains the Supplementary Material of Human and mouse proteases: a comparative genomic approach Nat Rev Genet (2003) 4: 544-558, Genome sequence of the brown Norway rat yields insights into mammalian evolution Nature (2004) 428: 493-521, A genomic analysis of rat proteases and protease inhibitors Genome Res. (2004) 14: 609-622, and Comparative genomic analysis of human and chimpanzee proteases Genomics (2005) 86: 638-647. | degradome, mammalian, protease inhibitor, protease, gene, protease gene, genetic disease, proteolysis, protease structure, ancillary domain, genomic, genome |
is related to: Ancillary Domains Associated With Human and Mouse Proteases has parent organization: University of Oviedo; Oviedo; Spain |
Disease of proteolysis | European Union ; CancerDegradome-FP6 and FP7 ; Spanish Ministry of Science and Innovation ; Fundacion M Botin ; Fundacion Lilly ; Obra Social Cajastur |
PMID:18776217 | nif-0000-02746 | SCR_007624 | Mammalian Degradome Database | 2026-08-06 09:26:59 | 10 | |||||
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JGI Genome Portal Resource Report Resource Website 500+ mentions |
JGI Genome Portal (RRID:SCR_002383) | portal, department portal, data or information resource, organization portal | Portal providing access to all JGI genomic databases and analytical tools, sequencing projects and their status, search for and download assemblies and annotations of sequenced genomes, and interactively explore those genomes and compare them with other sequenced microbes, fungi, plants or metagenomes using specialized systems tailored to each particular class of organisms. The Department of Energy (DOE) Joint Genome Institute (JGI) is a national user facility with massive-scale DNA sequencing and analysis capabilities dedicated to advancing genomics for bioenergy and environmental applications. Beyond generating tens of trillions of DNA bases annually, the Institute develops and maintains data management systems and specialized analytical capabilities to manage and interpret complex genomic data sets, and to enable an expanding community of users around the world to analyze these data in different contexts over the web. | gene, computation, genome, genomics, model organism, assembly, annotation, sequenced genome, metagenome, bio.tools |
is listed by: OMICtools is listed by: bio.tools is listed by: Debian has parent organization: DOE Joint Genome Institute is parent organization of: Takifugu rubripes Genome |
Department of Energy | PMID:24225321 PMID:22110030 |
nif-0000-21230, SCR_004706, OMICS_01654, biotools:jgi_genome_portal, nlx_69965 | http://genome.jgi-psf.org, https://bio.tools/jgi_genome_portal | http://genome.jgi-psf.org/ | SCR_002383 | JGI Genome Portal, DOE Joint Genome Institute Genome Portal | 2026-08-06 09:25:38 | 865 | |||||
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SNAP - SNP Annotation and Proxy Search Resource Report Resource Website 100+ mentions |
SNAP - SNP Annotation and Proxy Search (RRID:SCR_002127) | SNAP | software resource, service resource, production service resource, data analysis service, software application, analysis service resource | A computer program and web-based service for the rapid retrieval of linkage disequilibrium proxy single nucleotide polymorphism (SNP) results given input of one or more query SNPs and based on empirical observations from the International HapMap Project and the 1000 Genomes Project. A series of filters allow users to optionally retrieve results that are limited to specific combinations of genotyping platforms, above specified pairwise r2 thresholds, or up to a maximum distance between query and proxy SNPs. SNAP can also generate linkage disequilibrium plots | gene, genetic, genomic, r, oracle, single nucleotide polymorphism, linkage disequilibrium, genotypeing array, physical distance, membership, proxy, plot |
is listed by: OMICtools is listed by: Genetic Analysis Software is related to: International HapMap Project is related to: 1000 Genomes: A Deep Catalog of Human Genetic Variation has parent organization: Broad Institute |
NHLBI N01-HC-65226 | PMID:18974171 | Free, Freely Available | OMICS_01927, nlx_154638 | http://www.broad.mit.edu/mpg/snap/ | SCR_002127 | SNAP (SNP Annotation and Proxy Search), SNAP 2, SNP Annotation and Proxy Search | 2026-08-06 09:25:33 | 144 | ||||
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pfSNP Resource Report Resource Website 1+ mentions |
pfSNP (RRID:SCR_002167) | pfSNP | storage service resource, service resource, data repository, data or information resource, database | Search engine integrating various bio-informatic resources and algorithims to produce a one-stop resource for biologists to identify potentially functional SNPs. It caters to different groups of scientists interested in SNPs including those working in the following areas: * Whole-genome association studies * Gene-based association studies * Designing experiments to address the functionality of specific SNPs * Determining potentially functionally significant SNPs that are in LD with non-pfSNPs of interest. Users may add published SNP functions. | single nucleotide polymorphism, function, association study, gene, genome |
is listed by: OMICtools has parent organization: National University of Singapore; Singapore; Singapore |
PMID:20672376 | THIS RESOURCE IS NO LONGER IN SERVICE | OMICS_01854 | SCR_002167 | Potentially Functional SNP Search Engine, pfSNP Search Engine | 2026-08-06 09:25:36 | 7 | ||||||
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Autosomal Recessive Polycystic Kidney Disease Mutation Database Resource Report Resource Website 10+ mentions |
Autosomal Recessive Polycystic Kidney Disease Mutation Database (RRID:SCR_002290) | storage service resource, service resource, data repository, data or information resource, database | Catalog of all changes detected in PKHD1 (Polycystic Kidney and Hepatic Disease 1) in a locus specific database. Investigators are invited to submit their novel data to this database. These data should be meaningful for clinical practice as well as of relevance for the reader interested in molecular aspects of polycystic kidney disease (PKD). There are also some links and information for ARPKD patients and their parents. Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. This study reports mutation screening in 90 ARPKD patients and identifies mutations in 110 alleles making up a detection rate of 61%. Thirty-four of the detected mutations have not been reported previously. Two underlying mutations in 40 patients and one mutation in 30 cases are disclosed, and no mutation was detected on the remaining chromosomes. Mutations were found to be scattered throughout the gene without evidence of clustering at specific sites. PKHD1 mutation analysis is a powerful tool to establish the molecular cause of ARPKD in a given family. Direct identification of mutations allows an unequivocal diagnosis and accurate genetic counseling even in families displaying diagnostic challenges. | clinical, gene, genetic, mutation, protein, recessive, renal | has parent organization: RWTH Aachen University; Aachen; Germany | Autosomal recessive polycystic kidney disease, Polycystic kidney disease | PMID:16199545 PMID:11919560 |
Permission required, Terms of use | nif-0000-21038 | http://www.humgen.rwth-aachen.de/index.asp?subform=database.html&nav=database_nav.html | SCR_002290 | Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) | 2026-08-06 09:25:37 | 14 | |||||
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Genevestigator Resource Report Resource Website 100+ mentions |
Genevestigator (RRID:SCR_002358) | Genevestigator | commercial organization, service resource, production service resource, data analysis service, data or information resource, analysis service resource, database | A high performance search engine for gene expression that integrates thousands of manually curated public microarray and RNAseq experiments and nicely visualizes gene expression across different biological contexts (diseases, drugs, tissues, cancers, genotypes, etc.). There are two basic analysis approaches: # for a gene of interest, identify which conditions affect its expression. # for condition(s) of interest, identify which genes are specifically expressed in this/these conditions. Genevestigator builds on the deep integration of data, both at the level of data normalization and on the level of sample annotations. This deep integration allows scientists to ask new types of questions that cannot be addressed using conventional tools. | gene, genetic, animal, development, disease, meta-analysis, regulation, stage, microarray, rnaseq, visualization, gene expression, disease, drug, tissue, cancer, genotype, pharma, biomedical, conditions, genotype, anatomy, neoplasm, chemical, hormone, infection, model organism, organ, cell type, cell line, target, biomarker, similarity, FASEB list | is parent organization of: RefGenes | 4 products:, Free, Free for academic use, Account required, Paid subscription, Local installation | nif-0000-21172, OMICS_00763 | SCR_002358 | 2026-08-06 09:25:38 | 396 | ||||||||
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Community Cyberinfrastructure for Advanced Marine Microbial Ecology Research and Analysis Resource Report Resource Website 50+ mentions |
Community Cyberinfrastructure for Advanced Marine Microbial Ecology Research and Analysis (RRID:SCR_002676) | CAMERA | storage service resource, service resource, production service resource, data repository, data analysis service, data or information resource, organization portal, portal, analysis service resource | THIS RESOURCE IS NO LONGER IN SERVICE, documented May 26, 2016; however, the URL provides links to associated projects and data. A suite of data query, download, upload, analysis and sharing tools serving the needs of the microbial ecology research community, and other scientists using metagenomics data. | ecology, energy, environment, gene, analysis, bioinformatics, biological, biology, community, cyberinfrastructure, data, dna, genome, genomics, health care, map, marine, metadata, metagenomic, microbial, microbiology, molecular biology, organism, research, scientific, sequence, sequencing, software, tool, training, viral |
is listed by: OMICtools is related to: VIROME has parent organization: University of California at San Diego; California; USA |
Gordon and Betty Moore Foundation | PMID:21045053 | THIS RESOURCE IS NO LONGER IN SERVICE | SCR_011924, OMICS_01476, nif-0000-23292 | SCR_002676 | 2026-08-06 09:25:41 | 83 | ||||||
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Centre for Modeling Human Disease Gene Trap Resource Resource Report Resource Website 1+ mentions |
Centre for Modeling Human Disease Gene Trap Resource (RRID:SCR_002785) | CMHD Gene Trap Resource | production service resource, material service resource, biomaterial manufacture, service resource | Generate gene trap insertions using mutagenic polyA trap vectors, followed by sequence tagging to develop a library of mutagenized ES cells freely available to the scientific community. This library is searchable by sequence or key word searches including gene name or symbol, chromosome location, or Gene Ontology (GO) terms. In addition,they offer a custom email alert service in which researchers are able to submit search criteria. Researchers will receive automated e-mail notification of matching gene trap clones as they are entered into the library and database. The resource features the use of complementary second and third generation polyA trap vectors developed by the Stanford lab and the laboratory of Professor Yasumasa Ishida of the Nara Institute of Science and Technology (NAIST) in Japan to mutagenize murine embryonic stem (ES) cells. CMHD gene trap clones are distributed by the Canadian Mouse Mutant Repository(CMMR). Information about ordering, services, and pricing can be found on their web site (http://www.cmmr.ca/services/index.html)., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 15,2026. | embryonic stem cell, polya trap vector, gene trap, insertion, mutagenic polya trap vector, sequence, expression, mutagenesis, gene, mutation, expression profile, phenotype, database, gene expression, vector insertion, expressed sequence tag, blast, clone |
is related to: Gene Ontology is related to: CMMR - Canadian Mouse Mutant Repository is related to: International Gene Trap Consortium has parent organization: CMHD - Centre for Modeling Human Disease |
Canadian Institutes of Health Research ; Genome Canada ; Genome Prairie ; NIH |
PMID:14681480 | THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-02891 | http://www.cmhd.ca/sub/genetrap.asp | SCR_002785 | Centre for Modeling Human Disease (CMHD) Gene Trap Resource | 2026-08-06 09:25:43 | 3 | ||||
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Honey Bee Genome Project Resource Report Resource Website 1+ mentions |
Honey Bee Genome Project (RRID:SCR_002890) | portal, topical portal, data or information resource | The HGSC has sequenced the honey bee, Apis mellifera. The version 4.0 assembly was released in March 2006 and published in October 2006. The genome sequence is being upgraded with additional sequence coverage. The honey bee is important in the agricultural community as a producer of honey and as a facilitator of pollination. It is a model organism for studying the following human health issues: immunity, allergic reaction, antibiotic resistance, development, mental health, longevity and diseases of the X chromosome. In addition, biologists are interested in the honey bee's social organization and behavioral traits. This project was proposed to the HGSC by a group of dedicated insect biologists, headed by Gene Robinson. Following a workshop at the HGSC and a honey bee white paper, the HGSC began the project in 2002. A 6-fold coverage WGS, BAC sequence from pooled arrays, and an initial genome assembly (Amel_v1.0) were released beginning in 2003. This has been a challenging project with difficulty in recovering AT-rich regions. The WGS data had lower coverage in AT-rich regions and BAC data from clones showed evidence of internal deletions. Additional reads from AT enriched DNA addressed these underrepresented regions. The current assembly Amel_4.0 was produced with Atlas and includes 2.7 million reads (1.8 Gb) or 7.5x coverage of the (clonable) genome. About 97% of STSs, 98% of ESTs, and 96% of cDNAs are represented in the 231 Mb assembly. About 2,500 reads were also produced from a strain of Africanized honey bee and SNPs were extracted. These were released in dbSNP and the NCBI Trace Archive. Analysis of the genome by a consortium of 20 labs has been completed. This produced a gene list derived from five different methods melded through the GLEAN software. Publications include a main paper in Nature and up to forty companion papers in Genome Research and Insect Molecular Biology. Sponsors: Sequencing of the honey bee is jointly funded by National Human Genome Research Institute (NHGRI) and the Department of Agriculture (USDA). Multiple drones from the same queen (strain DH4) were obtained from Danny Weaver of B. Weaver Apiaries. All libraries were made from DNA isolated from these drones. The honey bee BAC library (CHORI-224) was prepared by Pieter de Jong and Katzutoyo Osoegawa at the Children's Hospital Oakland Research Institute. | gene, agricultural, allergy, antibiotic, apis mellifera, array, behavioral, biologist, chromosome, development, disease, genome, heath, honey bee, human, immunity, insect, mental heath, organism, pollination, reaction, resistance, sequence, trait | has parent organization: Baylor University; Texas; USA | THIS RESOURCE IS NO LONGER IN SERVICE | nif-0000-25604 | http://www.hgsc.bcm.tmc.edu/project-species-i-Apis%20mellifera.hgsc?pageLocation=Apis%20mellifera | SCR_002890 | Honey Bee | 2026-08-06 09:25:45 | 4 |
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