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http://www.jurgott.org/linkage/ListSoftware.html

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 4th,2023. Listing of computer software for the gene mapping community on the following topics: genetic linkage analysis for human pedigree data, QTL analysis for animal/plant breeding data, genetic marker ordering, genetic association analysis, haplotype construction, pedigree drawing, and population genetics. The inclusion of a program should not be interpreted as an endorsement to that program from us. In the last few years, new technology produces new types of genetic data, and the scope of genetic analyses change dramatically. It is no longer obvious whether a program should be included or excluded from this list. Topics such as next-generation-sequencing (NGS), gene expression, genomics annotation, etc. can all be relevant to a genetic study, yet be specialized topics by themselves. Though programs on variance calling from NSG can be in, those can sequence alignment might be out; programs on eQTL can be in, those on differential expression might be out. This page was created by Dr. Wentian Li, when he was at Columbia University (1995-1996). It was later moved to Rockefeller University (1996-2002), and now takes its new home at North Shore LIJ Research Institute (2002-now). The present copy is maintained by Jurg Ott as a single file. More than 240 programs have been listed by December 2004, more than 350 programs by August 2005, close to 400 programs by December 2006, and close to 480 programs by November 2008, and over 600 programs by October 2012. A version of the searchable database was developed by Zhiliang Hu of Iowa State University, and a recent round of updating was assisted by Wei JIANG of Harbin Medical School. Some earlier software can be downloaded from EBI: ftp://ftp.ebi.ac.uk/pub/software/linkage_and_mapping/ (Linkage and Mapping Software Repository), and http://genamics.com/software/index.htm may contain archived copy of some programs.

Proper citation: Genetic Analysis Software (RRID:SCR_013155) Copy   

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http://mayoresearch.mayo.edu/mayo/research/schaid_lab/software.cfm

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 24,2023. Software application that simultaneously estimates a trait-locus position and its genetic effects for affected relative pairs (ARP) by one of two methods. Either allow a different trait-locus effect for each ARP type, or constrain the trait-locus effects according to the marginal effect of a single susceptibility locus. We include a goodness of fit statistic for the constrained model. (entry from Genetic Analysis Software)

Proper citation: ARP.GEE (RRID:SCR_013134) Copy   

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http://genetics.bwh.harvard.edu/pph2/

Software tool which predicts possible impact of amino acid substitution on structure and function of human protein using straightforward physical and comparative considerations. PolyPhen-2 is new development of PolyPhen tool for annotating coding nonsynonymous SNPs.

Proper citation: PolyPhen: Polymorphism Phenotyping (RRID:SCR_013189) Copy   

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http://web.bioinformatics.ic.ac.uk/eqtlexplorer/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on June 1,2023. eQTL Explorer was developed as a computational resource to visualize and explore data from combined genome-wide expression and linkage studies is essential for the development of testable hypotheses. This visualization tool stores expression profiles, linkage data and information from external sources in a relational database and enables simultaneous visualization and intuitive interpretation of the combined data via a Java graphical interface. eQTL Explorer also provides a new and powerful tool to interrogate these very large and complex datasets. eQTLexplorer allows users to mine and understand data from a repository of genetical genomics experiments. It will graphically display eQTL information based on a certain number of selection criteria, including: tissue type, p-value, cis/trans, probeset Affymetrix id and PQTL type. Sponsors: This work was funded by the MRC Clinical Sciences Centre and the Wellcome Trust programme for Cardiovascular Functional Genomics.

Proper citation: eQTL Visualization Tool (RRID:SCR_013413) Copy   

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http://sift.bii.a-star.edu.sg/

Data analysis service to predict whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids. SIFT can be applied to naturally occurring nonsynonymous polymorphisms and laboratory-induced missense mutations. (entry from Genetic Analysis Software) Web service is also available.

Proper citation: SIFT (RRID:SCR_012813) Copy   

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http://www.illumina.com/

American company incorporated that develops, manufactures and markets integrated systems for the analysis of genetic variation and biological function. Provides a line of products and services that serve the sequencing, genotyping and gene expression and proteomics markets. Its headquarters are located in San Diego, California.

Proper citation: Illumina (RRID:SCR_010233) Copy   

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http://www.type2diabetesgenetics.org/

Portal and database of DNA sequence, functional and epigenomic information, and clinical data from studies on type 2 diabetes and analytic tools to analyze these data. .Provides data and tools to promote understanding and treatment of type 2 diabetes and its complications. Used for identifying genetic biomarkers correlated to Type 2 diabetes and development of novel drugs for this disease.

Proper citation: Accelerating Medicines Partnership Type 2 Diabetes Knowledge Portal (AMP-T2D) (RRID:SCR_003743) Copy   

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http://coot.embl.de/g2d/

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 22, 2016. A database of candidate genes for mapped inherited human diseases. Candidate priorities are automatically established by a data mining algorithm that extracts putative genes in the chromosomal region where the disease is mapped, and evaluates their possible relation to the disease based on the phenotype of the disorder. Data analysis uses a scoring system developed for the possible functional relations of human genes to genetically inherited diseases that have been mapped onto chromosomal regions without assignment of a particular gene. Methodology can be divided in two parts: the association of genes to phenotypic features, and the identification of candidate genes on a chromosonal region by homology. This is an analysis of relations between phenotypic features and chemical objects, and from chemical objects to protein function terms, based on the whole MEDLINE and RefSeq databases.

Proper citation: Candidate Genes to Inherited Diseases (RRID:SCR_008190) Copy   

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http://www.anim.med.kyoto-u.ac.jp/nbr/default.aspx

NBRP-Rat was established to overcome limitations associated with properly utilizing existing rat resources. The collection of existing strains and genetic sub strains, phenotypic and genotypic characterization, cryopreservation of embryos, distribution of the collected rat strains, and a publicly accessible database of all assembled data are the major goals of this project. Once achieved, this unique database including the unique rat strains will become a powerful tool for biomedical research. A catalog of comparable, standardized and well characterized rat strains will lead to new and more precise research topics as well as it will facilitate biomedical sciences, drug discovery, advanced chemical research, and contributes to life sciences worldwide. As mentioned before, the major goals of NBRP-Rat are the collection, preservation and supply of rat strains. The repository includes strains from Japan and abroad, spontaneous mutants, congenic and recombinant strains as well as transgenic and mutagenized rats. Deposited rat strains are not only conserved as cryopreserved embryos and sperm. Many reference and frequently used rat strains are also maintained as living animals under SPF conditions. Furthermore, NBRP-rat provides a unique database on various rat strain phenotypes accompanied with basic genetic information. This allows scientists the selection of standardized and research specific strains. The animals themselves are provided free of charge to the research community (except for shipping costs). Sponsors: This project is one part of the National BioResource Projects (NBRP) in Japan for more than 20 species including animals, plants, microbes, tissues and DNAs. It is founded by the Japanese Ministry of Education, Culture, Sports, Science and Technology (Monkasho) and started in 2002.

Proper citation: National Bio Resource Project for the Rat. (RRID:SCR_012774) Copy   

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http://www.epilepsygenes.org/page/show/homepage

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.

Proper citation: Epilepsy Genetic Association Database (RRID:SCR_006840) Copy   

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http://www.broadinstitute.org/annotation/tetraodon/

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.

Proper citation: Tetraodon nigroviridis Database (RRID:SCR_007123) Copy   

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http://www.genepath.org/

GenePath is a web-enabled intelligent assistant for the analysis of genetic data and for discovery of genetic networks. GenePath uses abductive inference to elucidate network constraints and logic to derive consistent networks. Typically, it starts with a set of genetic experiments, uses a set of embedded rules (patterns) to infer relations between genes and outcome, and based on these relations constructs a genetic network.

Proper citation: GenePath (RRID:SCR_007974) Copy   

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http://hmut-tr.sourceforge.net/

The Molecular Biology and Genetics Department at Bogazii University is one of the major reference laboratories in Turkey, specialized in molecular analysis of common genetic disorders. Over the years, the rapid accumulation of mutation data in connection with detailed clinical and laboratory information, has led to the idea of establishing a national database for storing, analysing and presenting it in a more efficient and systematic way. For this purpose, an interdisciplinary project was initiated in 1995. b-Thalassemia and Hemophilia-B Databases were selected as preliminary models, for they offer alternative design and implementation strategies due to different clinical and genetic characteristics. b-Thalassemia is an autosomal recessive disorder, characterized by microcytosis and hemolytic anemia, which is the result of reduced b-Globin chain synthesis. In Turkey, the disease is represented with a gene frequency of 2 and reflected by a wide spectrum of clinical manifestations with the presence of more than 40 different mutation. Currently, there is no database available for thalassemia mutations. Hemophilia B is an X-linked recessive disorder caused by heterogenous mutations, resulting in a marked deficit of coagulation factor IX (FIX); an essential component of the clotting mechanism. A hemophilia B database was first published in 1990 as a list of point mutations and short additions and deletions with 115 mutations comprising 216 entries Gene-, System-, or Disease- Specific Databases

Proper citation: Turkish Human Mutation Database (RRID:SCR_008246) Copy   

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https://wiki.cgb.indiana.edu/display/DGC/Home

The Daphnia Genomics Consortium (DGC) is an international network of investigators committed to mounting the freshwater crustacean Daphnia as a model system for ecology, evolution and the environmental sciences. Along with research activities, the DGC is: (1) coordinating efforts towards developing the Daphnia genomic toolbox, which will then be available for use by the general community; (2) facilitating collaborative cross-disciplinary investigations; (3) developing bioinformatic strategies for organizing the rapidly growing genome database; and (4) exploring emerging technologies to improve high throughput analyses of molecular and ecological samples. If we are to succeed in creating a new model system for modern life-sciences research, it will need to be a community-wide effort. Research activities of the DGC are primarily focused on creating genomic tools and information. When completed, the current projects will offer a first view of the Daphnia genome''s topography, including regions of high and low recombination, the distribution of transposable, repetitive and regulatory elements, the size and structure of genes and of their neighborhoods. This information is crucial in formulating testable hypotheses relating genetics and demographics to the evolutionary potential or constraints of natural populations. Projects aiming to compile identifiable genes with their function are also underway, together with robust methods to verify these findings. Finally, these tools are being tested, by exploring their uses in key ecological and toxicological investigations. Each project benefits from the leadership and expertise of many individuals. For further details, begin by contacting the project directors. The DGC consists of biologists from a broad spectrum of subdisciplines, including limnology, ecotoxicology, quantitative and population genetics, systematics, molecular biology and evolution, developmental biology, genomics and bioinformatics. In many regards, the rapid early success of the consortium results from its grass-roots origin promoting an international composition, under a cooperative model, with significant scientific breadth. We hold to this approach in building this network and encourage more people to participate. All the while, the DGC is structured to effectively reach specific goals. The consortium includes an advisory board (composed of experts of the various subdisciplines), whose responsibility is to act as the research community''s agent in guiding the development of Daphnia genomic resources. The advisors communicate directly to DGC members, who are either contributing genomic tools or actively seeking funds for this function. The consortium''s main body (given the widespread interest in applying genomic tools in environmental studies) are the affiliates, who make use of these tools for their research and who are soliciting support.

Proper citation: Daphnia genomics consortium (RRID:SCR_008148) Copy   

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https://bbgre.brc.iop.kcl.ac.uk

A database and associated tools for investigating the genetic basis of neurodisability. It combines phenotype information from patients with neurodevelopmental and behavioral problems with clinical genetic data, and displays this information on the human genome map. Basic access to genetic information (deletions, duplications) relating to participants with neurodevelopmental disorders is provided without an account; access to the full dataset requires an account. The genetic information that is available to view comprises potentially pathogenic copy number variation across the genome, detected by array comparative genome hybridization (aCGH) using a customized 44K oligonucleotide array.

Proper citation: Brain and Body Genetic Resource Exchange (RRID:SCR_008959) Copy   

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http://www.informatics.jax.org/

Community model organism database for laboratory mouse and authoritative source for phenotype and functional annotations of mouse genes. MGD includes complete catalog of mouse genes and genome features with integrated access to genetic, genomic and phenotypic information, all serving to further the use of the mouse as a model system for studying human biology and disease. MGD is a major component of the Mouse Genome Informatics.Contains standardized descriptions of mouse phenotypes, associations between mouse models and human genetic diseases, extensive integration of DNA and protein sequence data, normalized representation of genome and genome variant information. Data are obtained and integrated via manual curation of the biomedical literature, direct contributions from individual investigators and downloads from major informatics resource centers. MGD collaborates with the bioinformatics community on the development and use of biomedical ontologies such as the Gene Ontology (GO) and the Mammalian Phenotype (MP) Ontology.

Proper citation: Mouse Genome Database (RRID:SCR_012953) Copy   

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http://www.tidebc.org/

A collaborative care and research initiative with a focus on prevention and treatment of Intellectual disability (ID) that is due to inborn errors of metabolism (IEM), which can be treated with diet or drugs. Health care policy and institutional culture is still operating under the old premise that all ID is incurable and thus, many children born with treatable ID are at risk of not being treated. To acknowledge the multidisciplinary scope and the ways in which health care professionals and researchers will collaborate, the goals of the TIDE BC project are demonstrated within a framework of 7 Work Packages: * Implementation of a new Protocol for diagnostic evaluation of ID, focusing of treatable conditions; * Development of infrastructure to facilitate implementation, evaluation and sustainability of the Protocol; * Investments into next generation genomic technologies; * Improving evidence of and access to treatments; * Evaluation and health economy; * Knowledge dissemination; * Education and Mentoring. The objectives addressed in all Work Packages reflect a highly integrated cluster combining clinical care, research, evaluation, and knowledge dissemination.

Proper citation: TIDE BC (RRID:SCR_003924) Copy   

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http://www.zfatlas.psu.edu/

Atlas containing 2- and 3-dimensional, anatomical reference slides of the lifespan of the zebrafish to support research and education worldwide. Hematoxylin and eosin histological slides, at various points in the lifespan of the zebrafish, have been scanned at 40x resolution and are available through a virtual slide viewer. 3D models of the organs are reconstructed from plastic tissue sections of embryo and larvae. The size of the zebrafish, which allows sections to fall conveniently within the dimensions of the common 1 x 3 glass slide, makes it possible for this anatomical atlas to become as high resolution as for any vertebrate. That resolution, together with the integration of histology and organ anatomy, will create unique opportunities for comparisons with both smaller and larger model systems that each have their own strengths in research and educational value. The atlas team is working to allow the site to function as a scaffold for collaborative research and educational activity across disciplines and model organisms. The Zebrafish Atlas was created to answer a community call for a comprehensive, web-based, anatomical and pathological atlas of the zebrafish, which has become one of the most widely used vertebrate animal models globally. The experimental strengths of zebrafish as a model system have made it useful for a wide range of investigations addressing the missions of the NIH and NSF. The Zebrafish Atlas provides reference slides for virtual microscopic viewing of the zebrafish using an Internet browser. Virtual slide technology allows the user to choose their own field of view and magnification, and to consult labeled histological sections of zebrafish. We are planning to include a complete set of embryos, larvae, juveniles, and adults from approximately 25 different ages. Future work will also include a variety of comparisons (e.g. normal vs. mutant, normal vs. diseased, multiple stages of development, zebrafish with other organisms, and different types of cancer)., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: Zebrafish Atlas (RRID:SCR_006722) Copy   

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

Software application that plots measures of pairwise linkage disequilibria for SNPs (entry from Genetic Analysis Software)

Proper citation: LDHEATMAP (RRID:SCR_006312) Copy   

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http://wpicr.wpic.pitt.edu/WPICCompGen/hclust/hclust.htm

Software application that is a simple clustering method that can be used to rapidly identify a set of tag SNP's based upon genotype data (entry from Genetic Analysis Software), THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: HCLUST (RRID:SCR_009154) Copy   

•   Source: SciCrunch Registry