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http://soap.genomics.org.cn/

Software package that provides full solution to next generation sequencing data analysis consisting of an alignment tool (SOAPaligner/soap2), a re-sequencing consensus sequence builder (SOAPsnp), an indel finder ( SOAPindel ), a structural variation scanner ( SOAPsv ), a de novo short reads assembler ( SOAPdenovo ), and a GPU-accelerated alignment tool for aligning short reads with a reference sequence. (SOAP3/GPU)., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: SOAP (RRID:SCR_000689) 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://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://geneticassociationdb.nih.gov/

The Genetic Association Database is an archive of human genetic association studies of complex diseases and disorders. The goal of this database is to allow the user to rapidly identify medically relevant polymorphism from the large volume of polymorphism and mutational data, in the context of standardized nomenclature. The data is from published scientific papers. Study data is recorded in the context of official human gene nomenclature with additional molecular reference numbers and links. It is gene centered. That is, each record is a record of a gene or marker. If a study investigated 6 genes for a particular disorder, there will be 6 records. Anyone may view this database and anyone may submit records. You do not have to be an author on the original study to submit a record. All submitted records will be reviewed before inclusion in the archive. Both genetic and environmental factors contribute to human diseases. Most common diseases are influenced by a large number of genetic and environmental factors, most of which individually have only a modest effect on the disease. Though genetic contributions are relatively well characterized for some monogenetic diseases, there has been no effort at curating the extensive list of environmental etiological factors. From a comprehensive search of the MeSH annotation of MEDLINE articles, they identified 3,342 environmental etiological factors associated with 3,159 diseases. They also identified 1,100 genes associated with 1,034 complex diseases from the NIH Genetic Association Database (GAD), a database of genetic association studies. 863 diseases have both genetic and environmental etiological factors available. Integrating genetic and environmental factors results in the etiome, which they define as the comprehensive compendium of disease etiology.

Proper citation: Genetic Association Database (RRID:SCR_013264) Copy   

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http://www.reading.ac.uk/Statistics/genetics/software.html

Software application (entry from Genetic Analysis Software)

Proper citation: LAMBDAA (RRID:SCR_001128) Copy   

•   Source: SciCrunch Registry

http://www.sanger.ac.uk/science/tools/carol

Software application that is a combined functional annotation score of non-synonymous coding variants. A major challenge in interpreting whole-exome data is predicting which of the discovered variants are deleterious or neutral. To address this question in silico, they have developed a score called Combined Annotation scoRing toOL (CAROL), which combines information from two bioinformatics tools: PolyPhen-2 and SIFT, in order to improve the prediction of the effect of non-synonymous coding variants. The combination of annotation tools can help improve automated prediction of whole-genome/exome non-synonymous variant functional consequences. (entry from Genetic Analysis Software) The software should run on any UNIX or GNU/Linux system.

Proper citation: CAROL (RRID:SCR_001800) Copy   

•   Source: SciCrunch Registry

http://www.reading.ac.uk/Statistics/genetics/software.html

Software application (entry from Genetic Analysis Software)

Proper citation: LDMET (RRID:SCR_001127) Copy   

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http://support.illumina.com/sequencing/sequencing_software/casava.html

Software package that creates genomic builds, calls SNPs, detects indels, and counts reads from data generated from one or more sequencing runs. In addition, CASAVA automatically generates a range of statistics, such as mean depth and percentage chromosome coverage, to enable comparison with previous builds or other samples. CASAVA analyzes sequencing reads in three stages: * FASTQ file generation and demultiplexing * Alignment to a reference genome * Variant detection and counting

Proper citation: CASAVA (RRID:SCR_001802) Copy   

•   Source: SciCrunch Registry

http://genome.sph.umich.edu/wiki/Polymutt

Software program that implemented a likelihood-based framework for calling single nucleotide variants and detecting de novo point mutation events in families for next-generation sequencing data. The program takes as input genotype likelihood format (GLF) files which can be generated following the Creation of GLF files instruction and outputs the result in the (VCF) format. The variant calling and de novo mutation detection are modelled jointly within families and can handle both nuclear and extended pedigrees without consanguinity loops. The input is a set of GLF files for each of family members and the relationships are specified through the .ped file. (entry from Genetic Analysis Software)

Proper citation: POLYMUTT (RRID:SCR_002051) Copy   

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https://hsph.harvard.edu/research/price-lab/software/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Software application (entry from Genetic Analysis Software)

Proper citation: EIGENSOFT/EIGENSTRAT (RRID:SCR_001357) Copy   

•   Source: SciCrunch Registry

https://www.broadinstitute.org/birdsuite/birdsuite

Open-source set of tools to detect and report SNP genotypes, common Copy-Number Polymorphisms (CNPs), and novel, rare, or de novo CNVs in samples processed with the Affymetrix platform. While most of the components of the suite can be run individually (for instance, to only do SNP genotyping), the Birdsuite is especially intended for integrated analysis of SNPs and CNVs.

Proper citation: BIRDSUITE (RRID:SCR_001794) Copy   

•   Source: SciCrunch Registry

http://www.sanger.ac.uk/science/tools/dindel

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on March 7,2024. Software program for calling small indels from short-read sequence data ("next generation sequence data"). It is currently designed to handle only Illumina data. Dindel takes BAM files with mapped Illumina read data and enables researchers to detect small indels and produce a VCF file of all the variant calls. It has been written in C++ and can be used on Linux-based and Mac computers (it has not been tested on Windows operating systems).

Proper citation: DINDEL (RRID:SCR_001827) Copy   

•   Source: SciCrunch Registry

http://animalgene.umn.edu/pedigraph/

A pedigree visualization program specifically designed to draw large, complex pedigrees. (entry from Genetic Analysis Software) Options include: * Full pedigree * Summarization * Extraction of individual pedigrees * Inbreeding calculation * Coancestry coefficient calculation * Color control * Drawing size * Page size and margins * Drawing styles

Proper citation: PEDIGRAPH (RRID:SCR_001938) Copy   

•   Source: SciCrunch Registry

http://ftp://morgan.med.utah.edu/pub/Mim

Software application using multipoint IBD method for partitioning genetic variance of quantitative traits to specific chromosome regions using data on nuclear families. (entry from Genetic Analysis Software)

Proper citation: Multipoint Identical-by-descent Method (RRID:SCR_004676) Copy   

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http://genome.sph.umich.edu/wiki/PedScript

Software tool that allows scripting of simple modifications to pedigree files. (entry from Genetic Analysis Software)

Proper citation: PEDSCRIPT (RRID:SCR_004571) Copy   

•   Source: SciCrunch Registry

http://www.chg.duke.edu/software/pedplot.html

Pedigree Plotting Program for the Pedfile Format (entry from Genetic Analysis Software)

Proper citation: PEDPLOT (RRID:SCR_003843) Copy   

•   Source: SciCrunch Registry

http://www.homepages.ed.ac.uk/pmckeigu/hapmixmap/hapmixmap_manual.html

Software application for modelling extended haplotypes in genetic association studies, similar to the FASTPHASE program. (entry from Genetic Analysis Software)

Proper citation: HAPMIXMAP (RRID:SCR_006066) Copy   

•   Source: SciCrunch Registry