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

Software package for TDT with extended haplotypes in the R language. R is the public domain dialect of S. It should be possible to port this library to the commercial Splus product. The main problem would be translation of the help files. (entry from Genetic Analysis Software)

Proper citation: R/TDTHAP (RRID:SCR_007625) Copy   

•   Source: SciCrunch Registry

http://wwwmgs.bionet.nsc.ru/mgs/gnw/about.shtml

GeneNetWorks is designed for accumulation of experimental data, data navigation, data analysis, and analysis of dependencies in the field of gene expression regulation. It integrates the databases and programs for processing the data about structure and function of DNA, RNA, and proteins, together with the other information resources important for gene expression description. The unique property of above described system is that all the resources within the system GeneNetWorks are divided according to the natural hierarchy of molecular genetic systems and has the following levels: (1) DNA; (2) RNA; (3) proteins; and (4) gene networks. Each module contains: 1) experimental data represented as a database or some sample; 2) program for data analysis; 3) results of an automated data processing; 4) tools for the graphical representation of these data and the results of the data analyses.

Proper citation: GeneNetWorks (RRID:SCR_008034) Copy   

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http://ncv.unl.edu/Angelettilab/HPV/Database.html

THIS RESOURCE IS NO LONGER IN SERVICE, documented May 10, 2017. A pilot effort that has developed a centralized, web-based biospecimen locator that presents biospecimens collected and stored at participating Arizona hospitals and biospecimen banks, which are available for acquisition and use by researchers. Researchers may use this site to browse, search and request biospecimens to use in qualified studies. The development of the ABL was guided by the Arizona Biospecimen Consortium (ABC), a consortium of hospitals and medical centers in the Phoenix area, and is now being piloted by this Consortium under the direction of ABRC. You may browse by type (cells, fluid, molecular, tissue) or disease. Common data elements decided by the ABC Standards Committee, based on data elements on the National Cancer Institute''s (NCI''s) Common Biorepository Model (CBM), are displayed. These describe the minimum set of data elements that the NCI determined were most important for a researcher to see about a biospecimen. The ABL currently does not display information on whether or not clinical data is available to accompany the biospecimens. However, a requester has the ability to solicit clinical data in the request. Once a request is approved, the biospecimen provider will contact the requester to discuss the request (and the requester''s questions) before finalizing the invoice and shipment. The ABL is available to the public to browse. In order to request biospecimens from the ABL, the researcher will be required to submit the requested required information. Upon submission of the information, shipment of the requested biospecimen(s) will be dependent on the scientific and institutional review approval. Account required. Registration is open to everyone., documented August 23, 2016. The Human Papillomaviruses Database collects, curates, analyzes, and publishes genetic sequences of papillomaviruses and related cellular proteins. It includes molecular biologists, sequence analysts, computer technicians, post-docs and graduate research assistants. This Web site has two main branches. The first contains our four annual data books of papillomavirus information, called Human Papillomaviruses: A Compilation and Analysis of Nucleic Acid and Amino Acid Sequences. and the second contains papillomavirus genetic sequence data. There is also a New Items location where we store the latest changes to the database or any other current news of interest. Besides the compendium, we also provide genetic sequence information for papilloma viruses and related cellular proteins. Each year they publish a compendium of papillomavirus information called Human Papillomaviruses: A Compilation and Analysis of Nucleic Acid and Amino Acid Sequences. which can now be downloaded from this Web site.

Proper citation: HPV Sequence Database (RRID:SCR_008154) Copy   

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http://www.animalgenome.org/pigs/nagrp.html

Database and resources on the pig genome.

Proper citation: U.S. Pig Genome Project (RRID:SCR_008151) Copy   

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http://csgr.pgml.uga.edu/

The objective of this project is to develop physical maps of the sorghum and rice genomes, based on BAC contigs that are cross-linked to each other and also to genetic maps and BAC islands for other large-genome crops and a library of ca. 50,000 expressed-sequence tags (EST''s) and corresponding cDNA clones, from diverse sorghum organs and developmental states. It also aims to improve understanding of genetic diversity and allelic richness that might be harbored ex situ (in gene banks) or in situ (in nature), and refine techniques for assesing allelic richness and Expedite data acquisition and utilization by a sound parnership between laboratory scientists and computational biologists. Specific goals of developing physical maps of sorghum and rice genomes include: -Enrich cross-links between sorghum and rice by mapping additional rice probes on sorghum. -Apply mapped DNA probes to macroarrays of sorghum, sugarcane, rice, and maize BACs. -Fingerprint 10x BAC libraries of Sorghum bicolor and S. propinquum. Libraries presently 3x and 6x respectively, to be expanded to 10x each. -Use fragment-matching (BAC-RF) method to determine locus-specificity in polyploids. - Contig assembly based on 1-3, plus rice BAC fingerprints generated under a separate Novartis project. -Evaluate methodology for rapid high-throughput assignment of new ESTs to BACs. -Conduct genomic sequencing in a region duplicated in both sorghum and arabidopsis. Selected BACs from sorghum(2), sugarcane, maize, rice, wheat. By improving the understanding of genetic diversity and allelic richness, the goal is to: -Sequence previously mapped sorghum DNA probes. -Discover & characterize 100 single nucleotide polymorphisms (SNPs) from cDNA markers. -Develop colorimetric high-throughput genotyping assays, and utilize to assess genetic diversity in geographically- and phenotypically-diverse sorghums. -Develop colorimetric high-throughput asssays for identifying phytochrome allelic variation, and apply these assays to a core collection representing a large set of genetic resources. -Support informatics group to streamline cataloging of DNA-level information relevant to large genetic resources collections. Lastly, the goals of expediting data acquisition and utilization include: -A new web-based resource for 3D-integration and visualization of structural and functional genomic data will be developed. -New sequence assembly and alignment software SABER (Sequence AssemBly in the presence of ERror), and PRIMAL(Practical RIgorous Multiple ALignment), will be evaluated with reference to existing standards (PHRED, PHRAP). -Specialized image processing and image analysis tools will be developed for acquistion and interpretation of qualitative and quantitative hybridization signals. To deal expeditiously with large volumes of data, parallel processing approaches will be investigated. Sponsors: * National Science Foundation (NSF) * National Sorghum Producers * University of Georgia Research Foundation (UGARF) * Georgia Research Alliance (GRA)

Proper citation: Comparative Saccharinae Genomics Resource (RRID:SCR_008153) Copy   

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http://genewindow.nci.nih.gov/

Software tool for pre- and post-genetic bioinformatics and analytical work, developed and used at the Core Genotyping Facility (CGF) at the National Cancer Institute. While Genewindow is implemented for the human genome and integrated with the CGF laboratory data, it stands as a useful tool to assist investigators in the selection of variants for study in vitro, or in novel genetic association studies. The Genewindow application and source code is publicly available for use in other genomes, and can be integrated with the analysis, storage, and archiving of data generated in any laboratory setting. This can assist laboratories in the choice and tracking of information related to genetic annotations, including variations and genomic positions. Features of GeneWindow include: -Intuitive representation of genomic variation using advanced web-based graphics (SVG) -Search by HUGO gene symbol, dbSNP ID, internal CGF polymorphism ID, or chromosome coordinates -Gene-centric display (only when a gene of interest is in view) oriented 5 to 3 regardless of the reference strand and adjacent genes -Two views, a Locus Overview, which varies in size depending on the gene or genomic region being viewed and, below it, a Sequence View displaying 2000 base pairs within the overview -Navigate the genome by clicking along the gene in the Locus Overview to change the Sequence View, expand or contract the genomic interval, or shift the view in the 5 or 3 direction (relative to the current gene) -Lists of available genomic features -Search for sequence matches in the Locus Overview -Genomic features are represented by shape, color and opacity with contextual information visible when the user moves over or clicks on a feature -Administrators can insert newly-discovered polymorphisms into the Genewindow database by entering annotations directly through the GUI -Integration with a Laboratory Information Management System (LIMS) or other databases is possible

Proper citation: GeneWindow (RRID:SCR_008183) Copy   

•   Source: SciCrunch Registry

http://www.snprc.org/

Center that supports studies of nonhuman primate models of human diseases, including common chronic diseases and infectious diseases and the effects that genetics and the environment have on physiological processes and disease susceptibility. SNPRC encourages the use of its resources by investigators from the national and international biomedical research communities.

Proper citation: Southwest National Primate Research Center (RRID:SCR_008292) Copy   

•   Source: SciCrunch Registry

http://www.oege.org/software/hwe-mr-calc.shtml

This portal leads to the Chi-sq Hardy-Weinberg equilibrium test calculator for biallelic markers (SNPs, indels etc), including analysis for ascertainment bias for dominant/recessive models (due to biological or technical causes.) The purpose of this web program is for estimating possible missingness and an approach to evaluating missingness under different genetic models. Mendelian randomization (MR) permits causal inference between exposures and a disease. It can be compared with randomized controlled trials. Whereas in a randomized controlled trial the randomization occurs at entry into the trial, in MR the randomization occurs during gamete formation and conception. Several factors, including time since conception and sampling variation, are relevant to the interpretation of an MR test. Particularly important is consideration of the missingness of genotypes that can be originated by chance, genotyping errors, or clinical ascertainment. Testing for Hardy-Weinberg equilibrium (HWE) is a genetic approach that permits evaluation of missingness. Through this tool, the authors demonstrate evidence of nonconformity with HWE in real data. They also perform simulations to characterize the sensitivity of HWE tests to missingness. Unresolved missingness could lead to a false rejection of causality in an MR investigation of trait-disease association. These results indicate that large-scale studies, very high quality genotyping data, and detailed knowledge of the life-course genetics of the alleles/genotypes studied will largely mitigate this risk. Sponsors: This resource is supported by an Intermediate Fellowship (grant FS/05/065/19497) from the British Heart Foundation.

Proper citation: Hardy-Weinberg Equilibrium Calculator (RRID:SCR_008371) Copy   

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http://cgems.cancer.gov

The project began as a pilot study to identify inherited genetic susceptibility to prostate and breast cancer. CGEMS has developed into a robust research program involving genome-wide association studies (GWASs) for a number of cancers to identify common genetic variants that affect a person''s risk of developing cancer. In collaboration with extramural scientists, NCI''s Division of Cancer Epidemiology and Genetics (DCEG) has carried out genome-wide scans for breast, prostate, pancreatic, and lung cancers, while a GWAS of bladder cancer is currently underway. By making the data available to both intramural and extramural research scientists, as well as those in the private sector through rapid posting, NIH can leverage its resources to ensure that the dramatic advances in genomics are incorporated into rigorous population-based studies. Ultimately, findings from these studies may yield new preventive, diagnostic, and therapeutic interventions for cancer. Sponsors: This resource is supported by the U.S. National Institues Of Health.

Proper citation: CGEMS (RRID:SCR_008445) Copy   

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http://www.biomedbridges.eu/

Consortium of 12 Biomedical sciences research infrastructure (BMS RI) partners to develop a shared e-infrastructure to allow interoperability between data and services in the biological, medical, translational and clinical domains (providing a complex knowledge environment comprising standards, ontologies, data and services) and thus strengthen biomedical resources in Europe. The BMS RIs are on the roadmap of the European Strategy Forum on Research Infrastructures (ESFRI). Connecting several European research infrastructures brings a diversity of ethical, legal and security concerns including data security requirements for participating e-Infrastructures that are storing or processing patient-related data (or biosamples): EATRIS, ECRIN, BBMRI, EuroBioImaging and EMBL-EBI. In addition, INSTRUCT is interested in secure sample transport and in intellectual property rights; Infrafrontier stores high-throughput data from mice. BBMRI with its focus on the availability of biomaterials is currently emphasizing aspects like k-anonymity and metadata management for its data. Sharing of imaging data by Euro-BioImaging poses challenges with respect to anonymisation and intellectual property. Therefore, an ethical, regulatory and security framework for international data sharing that covers these diverse areas and different types of data (e.g. clinical trials data, mouse data, and human genotype and DNA sequence data) is of crucial importance. The outcomes will lead to real and sustained improvement in the services the biomedical sciences research infrastructures offer to the research community. Data curation and sample description will be improved by the adoption of best practices and agreed standards. Many improvements will emerge from new interactions between RIs created by data linkage and networking. Ensuring access to relevant information for all life science researchers across all BMS RIs will enable scientists to conduct and share cutting-edge research.

Proper citation: BioMedBridges (RRID:SCR_006179) Copy   

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http://ccr.coriell.org/Sections/Collections/CDC/?SsId=16

A repository which houses DNA samples prepared from reference cell lines and are available for use in molecular genetic testing. The CF samples contain mutations associated with unique populations, combinations of IVS8 poly-thymidine tract variants, and mutations not previously available. Three DNA samples with homozygous MTHFR-related mutations are available. Hemochromatosis-associated samples include a compound HFE heterozygote and other combinations of HFE alleles. DNA samples with triplet repeats at the intermediate-range are available for HD and Fragile X syndrome. Mutations were confirmed in all cell lines from which the DNA has been prepared by reference testing and multi-laboratory pilot testing. Control DNA samples negative for all mutations are also available. Laboratories are encouraged to contact Coriell Cell Repositories to inquire about obtaining samples or donating samples as possible candidates for transformation.

Proper citation: CDC Cell and DNA Repository (RRID:SCR_004680) Copy   

•   Source: SciCrunch Registry

https://sfari.org/resources/simons-simplex-collection

Repository of genetic samples from approximately 3,000 families, each of which has one child affected with an Autism Spectrum Disorder (ASD) and parents unaffected with ASD. A central database characterizing all of the study subjects is available to any qualified researcher and biospecimens are freely available to SFARI grant holders, and to other researchers on a modest fee-for-use basis. Each genetic sample will have an associated collection of data that provides a precise characterization of the individual (phenotype). Rigorous phenotyping will maximize the value of the resource for a wide variety of future research projects into the causes and mechanisms of autism. The Simons Simplex Collection is operated by SFARI in collaboration with twelve university-affiliated research clinics.

Proper citation: Simons Simplex Collection (RRID:SCR_004644) Copy   

•   Source: SciCrunch Registry

http://galton.uchicago.edu/~junzhang/LAPSTRUCT.html

Software application to describe population structure using biomarker data ( typically SNPs, CNVs etc.) available in a population sample. The main features different from PCA are: (1) geometrically motivated and graphic model based; (2)robustness of outliers. (entry from Genetic Analysis Software)

Proper citation: LAPSTRUCT (RRID:SCR_007550) Copy   

•   Source: SciCrunch Registry

http://www.alspac.bris.ac.uk

A long-term health research project which follows pregnant women and their offspring in a continuous health and developmental study. More than 14,000 mothers enrolled during pregnancy in 1991 and 1992, and the health and development of their children has been followed in great detail. The ALSPAC families have provided a vast amount of genetic and environmental information over the years which can be made available to researchers globally.

Proper citation: ALSPAC (RRID:SCR_007260) Copy   

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http://www.pedigree-draw.com/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on April 12,2024. Software application for pedigree drawing (entry from Genetic Analysis Software)

Proper citation: Pedigree-Draw (RRID:SCR_008302) Copy   

•   Source: SciCrunch Registry

https://cnprc.ucdavis.edu/

Center for investigators studying human health and disease, offering the opportunity to assess the causes of disease, and new treatment methods in nonhuman primate models that closely recapitulate humans. Its mission is to provide interdisciplinary programs in biomedical research on significant human health-related problems in which nonhuman primates are the models of choice.

Proper citation: California National Primate Research Center (RRID:SCR_006426) Copy   

•   Source: SciCrunch Registry

https://www.broadinstitute.org/ccle/

A collaborative project between the Broad Institute and the Novartis Institutes for Biomedical Research and its Genomics Institute of the Novartis Research Foundation, with the goal of conducting a detailed genetic and pharmacologic characterization of a large panel of human cancer models. The CCLE also works to develop integrated computational analyses that link distinct pharmacologic vulnerabilities to genomic patterns and to translate cell line integrative genomics into cancer patient stratification. The CCLE provides public access to genomic data, analysis and visualization for about 1000 cell lines.

Proper citation: Cancer Cell Line Encyclopedia (RRID:SCR_013836) Copy   

•   Source: SciCrunch Registry

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

Software package in S-PLUS and R to test genetic linkage with covariates by regression methods with response IBD sharing for relative pairs. Account for correlations of IBD statistics and covariates for relative pairs within the same pedigree. (entry from Genetic Analysis Software)

Proper citation: IBDREG (RRID:SCR_013127) Copy   

•   Source: SciCrunch Registry

https://www.synapse.org/#!Synapse:syn4921369/wiki/235539

Portal of PsychENCODE Consortium to study role of rare genetic variants involved in several psychiatric disorders. Database of regulatory elements, epigenetic modifications, RNA and protein in brain.

Proper citation: PsychENCODE Knowledge Portal (RRID:SCR_017500) Copy   

•   Source: SciCrunch Registry

https://www.ars-grin.gov/npgs/

Cooperative effort by U.S. state and federal government and private organizations to preserve the genetic diversity of plants. The NPGS aids scientists and the need for genetic diversity by acquiring, preserving, evaluating, documenting and distributing crop germplasm. The NPGS is managed by the Agricultural Research Service (ARS), the in-house research agency of the United States Department of Agriculture (USDA). Funding for the NPGS comes primarily through appropriations from the U.S. Congress.

Proper citation: National Plant Germplasm System (NPGS) (RRID:SCR_016785) Copy   

•   Source: SciCrunch Registry