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http://linus.nci.nih.gov./BRB-ArrayTools.html
A software package for the visualization and statistical analysis of DNA microarray gene expression data. The tools have been developed from the R statistical system, in C and fortran programs and Java applications. They are integrated into Excel as an add-in.
Proper citation: Biometric Research Branch: ArrayTools (RRID:SCR_000778) Copy
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. The Computational Cancer Genomics (CCG) group is dedicated to the development of analysis tools and databases relating molecular sequences and biological functions. Sponsors: This group is supported by the Swiss Institute of Bioinformatics (SIB).
Proper citation: Computational Cancer Genomics Group (RRID:SCR_000772) Copy
http://www.genet.sickkids.on.ca/cftr/
Collection of mutations in CFTR gene for international cystic fibrosis genetics research community. Provides up to date information about individual mutations in CFTR gene. All known CFTR mutations and sequence variants have been converted to standard nomenclature recommended by Human Genome Variation Society. On line process for submission of new mutations has been added.While they continue to ensure quality of data, they urge international community to give them feedback and suggestions. Clinical information in this database relates only to details of discovery of specific mutations. As part of 2010 upgrade, CFTR1 joined new project called CFTR2 - Clinical and Functional TRanslation of CFTR. Links to CFTR2 for many mutations in CFTR1 will provide up-to-date summaries of genotype-phenotype information from patient registries around the world.
Proper citation: Cystic Fibrosis Mutation Database (RRID:SCR_000685) Copy
Software integrated tool for conducting automatic and manual sequence alignment, inferring phylogenetic trees, mining web based databases, estimating rates of molecular evolution, and testing evolutionary hypotheses. Used for comparative analysis of DNA and protein sequences to infer molecular evolutionary patterns of genes, genomes, and species over time. MEGA version 4 expands on existing facilities for editing DNA sequence data from autosequencers, mining Web-databases, performing automatic and manual sequence alignment, analyzing sequence alignments to estimate evolutionary distances, inferring phylogenetic trees, and testing evolutionary hypotheses. MEGA version 6 enables inference of timetrees, as it implements RelTime method for estimating divergence times for all branching points in phylogeny.
Proper citation: MEGA (RRID:SCR_000667) Copy
http://eumorphia.publicwebserver3.har.mrc.ac.uk/
A portal documenting a project for the development of novel approaches in phenotyping, mutagenesis and informatics to improve the characterization of mouse models for understanding human molecular physiology and pathology. EUMORPHIA has developed a new robust primary screening platform for determining the phenotype of mice: EMPReSS - European Mouse Phenotyping Resource for Standardised Screens. The project is also focused on training new young scientists by funding them to work in a variety of laboratories to gain a broader swathe of techniques. The project has also identified the need for more trained mouse pathologists. To address this, they are setting up training courses in pathology and working at a European level to establish more training.
Proper citation: Understanding Human Disease Through Mouse Genetics (RRID:SCR_000785) Copy
https://monarchinitiative.org/
Repository of information about model organisms, in vitro models, genes, pathways, gene expression, protein and genetic interactions, orthology, disease, phenotypes, publications, and authors, and ability to navigate multi-scale spatial and temporal phenotypes across in vivo and in vitro model systems in context of genetic and genomic data, using semantics and statistics. Discovery system provides basic and clinical science researchers, informaticists, and medical professionals with integrated interface and set of discovery tools to reveal genetic basis of disease, facilitate hypothesis generation, and identify novel candidate drug targets. Database that indexes authoritative information on experimental models of disease from MGI, RGD and ZFIN.
Proper citation: MONARCH Initiative (RRID:SCR_000824) Copy
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 6,2023. Web interface to the ANNOVAR software, a tool to annotate functional consequences of genetic variation from high-throughput sequencing data, to help biologists without bioinformatics skills to easily submit a list of mutations (even whole-genome variants calls) to the web server, select the desired annotation categories, and receive functional annotation back by emails. Given a list of single nucleotide variants (SNVs) and insertions / deletions in VCF or ANNOVAR input format, wANNOVAR annotates their functional effects on genes (such as amino acid changes for non-synonymous SNPs), calculate their predicted functional importance scores (such as SIFT and PolyPhen scores), retrieve allele frequencies in public databases (such as the 1000 Genomes Project and NHLBI-ESP 6500 exomes), and implement a variants reduction protocol to identify a subset of potentially deleterious variants., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.
Proper citation: wANNOVAR (RRID:SCR_000565) Copy
Collection of high resolution images and databases of brains from many genetically characterized strains of mice with aim to systematically map and characterize genes that modulate architecture of mammalian CNS. Includes detailed information on genomes of many strains of mice. Consists of images from approximately 800 brains and numerical data from just over 8000 mice. You can search MBL by strain, age, sex, body or brain weight. Images of slide collection are available at series of resolutions. Apple's QuickTime Plugin is required to view available MBL Movies.
Proper citation: Mouse Brain Library (RRID:SCR_001112) Copy
http://www.bioconductor.org/packages/release/bioc/html/categoryCompare.html
A software package for meta-analysis of high-throughput experiments using feature annotations. It calculates significant annotations (categories) in each of two (or more) feature (i.e. gene) lists, determines the overlap between the annotations, and returns graphical and tabular data about the significant annotations and which combinations of feature lists the annotations were found to be significant. Interactive exploration is facilitated through the use of RCytoscape (heavily suggested).
Proper citation: categoryCompare (RRID:SCR_001223) Copy
http://mlemire.freeshell.org/SimM.README
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on April 6th,2023. Gene dropping simulation software. The program is a gzip'ed tar archive and is designed to run under UNIX/Linux operating system.
Proper citation: SIMM (RRID:SCR_000849) Copy
A centralized sequence database and community resource for Tribolium genetics, genomics and developmental biology containing genomic sequence scaffolds mapped to 10 linkage groups, genetic linkage maps, the official gene set, Reference Sequences from NCBI (RefSeq), predicted gene models, ESTs and whole-genome tiling array data representing several developmental stages. The current version of Beetlebase is built on the Tribolium castaneum 3.0 Assembly (Tcas 3.0) released by the Human Genome Sequencing Center at the Baylor College of Medicine. The database is constructed using the upgraded Generic Model Organism Database (GMOD) modules. The genomic data is stored in a PostgreSQL relational database using the Chado schema and visualized as tracks in GBrowse. The genetic map is visualized using the comparative genetic map viewer CMAP. To enhance search capabilities, the BLAST search tool has been integrated with the GMOD tools. Tribolium castaneum is a very sophisticated genetic model organism among higher eukaryotes. As the member of a primitive order of holometabolous insects, Coleoptera, Tribolium is in a key phylogenetic position to understand the genetic innovations that accompanied the evolution of higher forms with more complex development. Coleoptera is also the largest and most species diverse of all eukaryotic orders and Tribolium offers the only genetic model for the profusion of medically and economically important species therein. The genome sequences may be downloaded.
Proper citation: BeetleBase (RRID:SCR_001955) Copy
http://www.sanger.ac.uk/resources/databases/exomiser/query/exomiser2
A Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF (Variant Call Format) file (version 4). The functional annotation code is based on Annovar and uses UCSCKnownGene transcript definitions and hg19 genomic coordinates. Variants are prioritized according to user-defined criteria on variant frequency, pathogenicity, quality, inheritance pattern, phenotype data from human and model organisms, and proximity in the interactome to phenotypically similar genes.
Proper citation: Exomiser (RRID:SCR_002192) Copy
Consortium to develop novel in vitro predictive screening tools and in vivo translational models and biomarkers to improve adverse drug reaction (ADR) hazard identification. This project studies the metabolic effects of eight drugs (among which are paracetamol and diclofenac ) with known side effects in the liver. By looking into the mechanics on a level ranging from the molecule to the patient, the researchers in this project aim to find biomarkers and develop tools for the early prediction of side effects of drugs. One of the breakthroughs in the project is the discovery that a person''''s genetic profile appears to be one of the mechanics that have an influence on the resistance to adverse drug reactions. The ability to identify adverse effects in an early stage will prevent much discomfort in patients and economic loss. Several PhD theses have been written from this project.
Proper citation: Towards novel translational safety biomarkers for adverse drug toxicity (RRID:SCR_004006) Copy
http://bioinformatics.aecom.yu.edu/index.htm
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 6, 2023. Primary informatics resource for joint research efforts of the Albert Einstein College of Medicine and Montefiore Medical Center to facilitate the study and understanding of biological processes, clinical disorders, pathologic abnormalities, and the relationships among them, using a wide variety of informatics techniques, applications, and user training. Their services include: * Collaboration on research design to enable effective data management throughout all phases of a project * Provision of management capability for large volumes of data generated by microarrays and related technologies * Provision and supports a software toolchest for data capture, retrieval, and analysis * Design and implementation of custom interfaces to incorporate existing or separately designed databases into the central data management architecture * Support for data management for the Biorepository, to enhance specimen storage, identification, and linkage with clinical data * Ensuring conformity of data elements and structures to national standards via participation in standards organizations, facilitating intramural and extramural collaboration * Providing individualized support to end-users with bioinformatics training needs * Serving as a bioinformatics liaison to other research institutes and organizations * Providing data management support for clinical research * Providing a common, secure repository for clinical, experimental, and biosample storage data
Proper citation: Einstein-Montefiore ICTR Research Informatics Core (RRID:SCR_003451) Copy
Service to discover disease genes in GWAS using eQTL signature matching by simply submitting your list of GWAS associations (SNPs and p-values). It is important to upload all SNPs in your association study, not just the top hits. Sherlock may be able to group multiple lower-confidence SNPs to discover functionally-important genes.
Proper citation: Sherlock (RRID:SCR_001628) Copy
https://lcn.salk.edu/WSMain.html
The Salk Institute's Laboratory for Cognitive Neuroscience (LCN) is dedicated to the study of the neural and genetic underpinnings of language and cognition. The LCN organizes its resources into two research foci: Linking Gene, Brain, and Cognition, and Language, Modality and the Brain. Linking Gene, Brain, and Cognition: Behavioral Neurogenetics: - This research is designed to increase the understanding of genetically based disorders, to investigate the consequences of genetic alterations on the development of the brain, and to explore the resulting alteration of cognitive capabilities. Language, Modality, and the Brain: - The focus of this research is to obtain a greater understanding of how language and cognition are represented in the brain. Sponsors: This resource is supported by LCN.
Proper citation: Salk Institute for Medical Research: Laboratory for Cognitive Neuroscience (RRID:SCR_001851) Copy
MedMOLE improves the comprehension of microarray experimental results by grouping co-regulated genes on the basis of the informational content of MEDLINE documents. The tool relies on two components: a gene name extractor and a mining algorithm. The name extractor is based on existing dictionaries of gene names and aliases. The mining algorithm analyses the co-occurrences of words in the selected documents in order to automatically interpret the context, identify where the gene names appear, and map documents/genes into functional classes. DNA microarray technology is a high throughput method for gaining information on gene function. This large amount of data can be analyzed to identify groups of genes that share common expression characteristics, but the obtained results provide little information regarding the presence of functional biological correlations of genes within clusters. The published literature, on the other hand, provides a potential source of information to assist in interpretation of clustering results. We have developed a tool (MedMOLE) that improves the comprehension of microarray experimental results by grouping co-regulated genes on the basis of the informational content of MEDLINE documents. The tool relies on two components: a gene name extractor and a mining algorithm. The name extractor is based on existing dictionaries of gene names and aliases. The mining algorithm analyses the co-occurrences of words in the selected documents in order to automatically interpret the context, identify where the gene names appear, and map documents/genes into functional classes. Microarray transcriptional profiling is a powerful tool used in the study of transcriptional control mechanisms. An important point in the analysis of microarray data is the identification of hidden correlations between the differentially expressed genes generated upon some kind of cell stimulus. Functional annotation is an important topic for microarray data mining, however this is quite limited for complex organisms (e.g. H. sapiens, M. musculus) where a limited number of genes are well characterized and annotated. However, functional data are rapidly accumulating in the scientific literature and most of them are collected by MEDLINE, a database that contains over 11,000,000 biomedical journal citations. A microarray analysis usually generates few hundred of differentially expressed genes and, after statistical validation of the data and transcription profiles clustering, biologists try to identify genes functionally correlated by scientific literature analysis. Even if some tools have been recently developed to simplify information extraction on the MEDLINE database, reading every article requires too much time and labor. Therefore, it is necessary to have some kind of intelligent information extracting system that recognizes gene names inside the texts. The analysis of text documents (e.g. MEDLINE abstracts) can be approached by two different points of view: text mining and information extraction (I.E.). The former aims at the automatic identification of groups of documents that share the same patterns of words, and thus refer to the same topic or theme. The latter aims at providing a structured representation of the textual information and requires a pre-definition of entities and relationships to be looked for inside texts. Thus while the text mining algorithms are general purpose, the information extraction algorithms are specific to the application. Furthermore, the text mining approach is explorative and enables the discovery of new concepts and relations while information extraction only extracts those elements that have already been defined. These two approaches can be integrated: information extraction tools generate databases that can be analyzed using data mining techniques, and, on the other side, text mining tools might take advantage of specific domain information extracted using I.E. techniques. MedMOLE takes advantage of text mining techniques, and simplifies the extraction of functional knowledge by literature abstracts directly/indirectly related to differentially expressed genes identified by microarray technology. Sponsors: This work was partially supported by PRIN 2001 and FIRB 2002 grants.
Proper citation: Mining On-Line Expert on MedLine (RRID:SCR_001848) Copy
http://datahub.io/dataset/kupkb
A collection of omics datasets (mRNA, proteins and miRNA) that have been extracted from PubMed and other related renal databases, all related to kidney physiology and pathology giving KUP biologists the means to ask queries across many resources in order to aggregate knowledge that is necessary for answering biological questions. Some microarray raw datasets have also been downloaded from the Gene Expression Omnibus and analyzed by the open-source software GeneArmada. The Semantic Web technologies, together with the background knowledge from the domain's ontologies, allows both rapid conversion and integration of this knowledge base. SPARQL endpoint http://sparql.kupkb.org/sparql The KUPKB Network Explorer will help you visualize the relationships among molecules stored in the KUPKB. A simple spreadsheet template is available for users to submit data to the KUPKB. It aims to capture a minimal amount of information about the experiment and the observations made.
Proper citation: Kidney and Urinary Pathway Knowledge Base (RRID:SCR_001746) Copy
http://gmod.org/wiki/Main_Page
A collection of open source software tools for creating and managing genome-scale biological databases. GMOD is made up databases, applications, and adaptor software that connects these components together. You can use it to create a small laboratory database of genome annotations, or a large web-accessible community database. At first GMOD just featured model organisms but now any organism with any kind of sequence associated with it is a good candidate as a subject for a GMOD database. There are GMOD databases with just protein sequence in them, with EST sequence only, those that are concerned primarily with gene expression, and even those dedicated to collections of RNA sequence. They have also heard of GMOD databases for oligonucleotides and plasmids.
Proper citation: Generic Model Organism Database Project (RRID:SCR_001731) Copy
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Time-series data sets spanning twelve time-points between E12-P9 for exploring cerebellar development of the mouse in time and space. The database contains a number of mutant / wildtype microarray datasets including two complete wildtype microarray time-series (C57BL/6 and DBA/2J). The dataset also includes in situ hybridization and bioinformatic analyses. Exploration of this dataset will allow the investigator to assess differential gene expression profiles from a developing mutant cerebella, to assess the temporal changes in gene expression in the wildtype, and to verify the cellular expression of these genes in images from our in situ hybridization library. Using the database, the investigator can explore the developmental expression or differential expression patterns of a particular gene, or create lists of similarly expression genes by building simple search algorithms. These lists can then be mined across all the datasets in both space and time. Cb GRiTS's current datasets represent gene expression analyses from multiple cerebellar mutant and wildtype single time-point and developmental series.
Proper citation: Cerebellar Gene Regulation in Time and Space Database (RRID:SCR_001699) Copy
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