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SciCrunch Registry is a curated repository of scientific resources, with a focus on biomedical resources, including tools, databases, and core facilities - visit SciCrunch to register your resource.
https://beast.community/tempest
Software tool for investigating temporal signal and clocklikeness of molecular phylogenies. Used for visualization and analysis of temporally sampled sequence data to assess whether there is sufficient temporal signal in data to proceed with phylogenetic molecular clock analysis, and to identify sequences whose genetic divergence and sampling date are incongruent. Not available for downloading as of August 8, 2019.
Proper citation: TempEst (RRID:SCR_017304) Copy
Open access database of all types of genetic variation data from all species. Users can download data from any study, or submit their own data to archive. You can also query all variants by study, gene, chromosomal location or dbSNP identifier using our Variant Browser.
Proper citation: European Variation Archive (EVA) (RRID:SCR_017425) Copy
https://www.ncbi.nlm.nih.gov/pubmed/17539361
Study of twins and their families provides tool for disentangling genetic and environmental origins of traits. Study collected behavioral and psychopathological information using self-, parent and teacher reports, and focused on contributions of genetic and environmental risk factors to psychological health of young people.
Proper citation: Cardiff Study of all Wales and North West of England Twins (RRID:SCR_017480) Copy
http://geneatlas.roslin.ed.ac.uk
Database of associations between traits and variants using UK Biobank cohort. Searchable atlas of genetic associations. Assists researchers to query UK Biobank. Provides unbiased view of phenotype and genotype associations across of traits.
Proper citation: GeneATLAS (RRID:SCR_017577) Copy
https://github.com/ctlab/GADMA
Software tool to implement methods for automatic inferring joint demographic history of multiple populations from genetic data. Genetic algorithm for inferring demographic history of multiple populations from allele frequency spectrum data.
Proper citation: GADMA (RRID:SCR_017680) Copy
https://ihg.helmholtz-muenchen.de/cgi-bin/hw/hwa1.pl
Software tool for performing tests for deviation from Hardy-Weinberg equilibrium and tests for association. Used in population-based genetic association studies to identify susceptibility genes for complex diseases.
Proper citation: Tests for deviation from Hardy-Weinberg equilibrium (RRID:SCR_016496) Copy
Platform for analysis of the genetics of cardiovascular disease.Used for searching and analysis of human genetic information linked to myocardial infarction, atrial fibrillation and related traits while protecting the integrity and confidentiality of the data.
Proper citation: Cardiovascular Disease Knowledge Portal (RRID:SCR_016536) Copy
https://www.ncbi.nlm.nih.gov/projects/mutagene/
Software tool to explore and analyze mutagenic factors leading to tumors to decipher cancer genetic heterogeneity.
Proper citation: MutaGene (RRID:SCR_016574) Copy
Project that aims to develop new treatment strategies based on knowledge of cellular dysfunction in diabetes. They will perform a detailed organelle diagnosis based on both focused and systems biology approaches, which will provide the scientific rationale for the design of specific interventions to boost the capacity of beta cells and brown adipocytes to regain homeostatic control. They propose that only by understanding the complex molecular mechanisms triggering cellular dysfunction in diabetes, and by integrating this knowledge at the systems level, will it be possible to develop interventional therapies that protect and restore beta cell and (Brown adipose tissue) BAT function. The ultimate goal is to offer individual therapeutic choices based on both genetic information and organelle diagnosis.
Proper citation: BetaBat (RRID:SCR_003834) Copy
http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling
The Handbook of Genetic Counseling is a wikibook designed as an introduction to the discipline and practice of genetic counseling. The text provides an introduction to genetic counseling as a clinical practice and includes sample counseling outlines and letters for students of genetic counseling. Additional outline and letter examples are highly encouraged. Wikibooks contains books on many medical topics; however, no warranty whatsoever is made that any of the books are accurate.
Proper citation: Handbook of Genetic Counseling (RRID:SCR_004564) Copy
http://www.genome.gov/Glossary/
Glossary of Genetic Terms to help everyone understand the terms and concepts used in genetic research. In addition to definitions, specialists in the field of genetics share their descriptions of terms, and many terms include images, animation and links to related terms.
Proper citation: Talking Glossary of Genetic Terms (RRID:SCR_003215) Copy
An international consortium to develop and assess novel approaches to identify and characterize biological markers for colon cancer that will deepen the understanding of the variable make-up of tumors and how this affects the way patients respond to treatment. They will use cutting edge laboratory-based genome sequencing techniques coupled to novel computer modelling approaches to study both the biological heterogeneity of colon cancers (i.e. patient to patient variability) as well as tumor variation within the patient for example, by comparing primary tumors with metastases. This five year project brings together top scientists from European academic institutions offering a wide range of expertise, and partners them with pharmaceutical companies. The project is based on the premise that this genetic and epigenetic information, combined with a description of the molecular pathology of the tumor, will allow OncoTrack to generate a more accurate in-silico model of the cancer cell. This will facilitate the identification of predictive markers that can be used to guide the optimal therapy strategy at the level of the individual patient - and will also provide on-going prognostic guidance for the clinician. This project will not only advance understanding of the fundamental biology of colon cancers but will provide the means and approach for the identification of previously undetected biomarkers not only in the cancer under study, but potentially also in other solid cancers and, in doing so, open the door for personalized management of the oncology patient.
Proper citation: OncoTrack (RRID:SCR_003767) Copy
http://www.themmrf.org/research-programs/commpass-study/
A personalized medicine initiative to discover biomarkers that can better define the biological basis of multiple myeloma to help stratify patients. This effort hopes to obtain samples from approximately 1,000 multiple myeloma patients and follow them over time to identify how a patient's genetic profile is related to clinical progression and treatment response. As a partnership between 17 academic centers, 5 pharmaceuticals and the Department of Veterans Affairs, the goal of this eight year study is to create a database that can accelerate future clinical trials and personalized treatment strategies. MMRF's CoMMpass Study has the following goals: * Create a guide to which treatments work best for specific patient subgroups. * Share data with researchers to accelerate drug development for specific subtypes of multiple myeloma patients. In order to facilitate discoveries and development related to targeted therapies, the comprehensive data from CoMMpass is placed in an open-access research portal. The data will be part of the Multiple Myeloma Research Foundation's (MMRF) Personalized Medicine Platform combines CoMMpass data with those collected from MMRF's Genomics Initiative. It is hoped that the longitudinal data, combined with the annotated bio-specimens will help provide insights that can accelerate personalized therapies.
Proper citation: MMRF CoMMpass Study (RRID:SCR_003721) Copy
http://www.transformproject.eu/portfolio-item/d6-2-clinical-research-information-model/
A clinical research information model for the integration of clinical research covering randomized clinical trials (RCT), case-control studies and database searches into the TRANSFoRm application development. TRANSFoRm clinical research is based on primary care data, clinical data and genetic data stored in databases and electronic health records and employs the principle of reusing primary care data, adapting data collection by patient reported outcomes (PRO) and eSource based Case Report Forms. CRIM was developed using the TRANSFoRm clinical use cases of GORD and Diabetes. Their use case driven approach consisted of three levels of modelling drawing heavily on the clinical research workflow of the use cases. Different available information models were evaluated for their usefulness to represent TRANSFoRm clinical research, including for example CTOM of caBIG, Primary Care Research Object Model (PRCOM) of ePCRN and BRIDG of CDISC. The PCROM model turned out to be the most suitable and it was possible to extend and modify this model with only 12 new information objects, 3 episode of care related objects and 2 areas to satisfy all requirements of the TRANSFoRm research use cases. Now the information model covers Good Clinical Practice (GCP) compliant research, as well as case control studies and database search studies, including the interaction between patient and GP (family doctor) during patient consultation, appointment, screening, patient recruitment and adverse event reporting.
Proper citation: TRANSFoRm Clinical Research Information Model (RRID:SCR_003889) Copy
http://www.europeanlung.org/en/projects-and-research/projects/airprom/
Consortium focused on developing computer and physical models of the airway system for patients with asthma and chronic obstructive pulmonary disease (COPD). Developing accurate models will better predict how asthma and COPD develop, since current methods can only assess the severity of disease. They aim to bridge the gaps in clinical management of airways-based disease by providing reliable models that predict disease progression and the response to treatment for each person with asthma or COPD. A data management platform provides a secure and sustainable infrastructure that semantically integrates the clinical, physiological, genetic, and experimental data produced with existing biomedical knowledge from allied consortia and public databases. This resource will be available for analysis and modeling, and will facilitate sharing, collaboration and publication within AirPROM and with the broader community. Currently the AirPROM knowledge portal is only accessible by AirPROM partners.
Proper citation: AirPROM (RRID:SCR_003827) Copy
http://www.genome.jp/kegg/expression/
Database for mapping gene expression profiles to pathways and genomes. Repository of microarray gene expression profile data for Synechocystis PCC6803 (syn), Bacillus subtilis (bsu), Escherichia coli W3110 (ecj), Anabaena PCC7120 (ana), and other species contributed by the Japanese research community.
Proper citation: Kyoto Encyclopedia of Genes and Genomes Expression Database (RRID:SCR_001120) Copy
http://www.bioconductor.org/packages/release/bioc/html/CGEN.html
Software R package for analysis of case-control studies in genetic epidemiology.
Proper citation: CGEN (RRID:SCR_001251) Copy
http://med.stanford.edu/tanglab/software/saber.html
Software program suitable for genome-scale data which uses a Markov-hidden Markov model (MHMM) to estimate local ancestry. The MHMM makes it possible to identify genomic blocks of a particular ancestry by use of any high-density single-nucleotide-polymorphism panel. One application is to perform admixture mapping without genotyping special ancestry-informative-marker panels.
Proper citation: SABER (RRID:SCR_001257) Copy
http://www.wpic.pitt.edu/wpiccompgen/GemTools/GemTools.htm
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Software tools for modeling genetic ancestry based on the single nucleotide polymorphism (SNP) information. This package of functions helps the user account for genetic ancestry of a large number of individuals using spectral graph theory and projections to break a large problem into smaller pieces and calculate genetic ancestry information efficiently, i.e., a divide and conquer (dac) strategy. It is completely written in R and runs on any platform that supports R.
Proper citation: GemTools (RRID:SCR_001259) Copy
http://www.morpholinodatabase.org/
Central database to house data on morpholino screens currently containing over 700 morpholinos including control and multiple morpholinos against the same target. A publicly accessible sequence-based search opens this database for morpholinos against a particular target for the zebrafish community. Morpholino Screens: They set out to identify all cotranslationally translocated genes in the zebrafish genome (Secretome/CTT-ome). Morpholinos were designed against putative secreted/CTT targets and injected into 1-4 cell stage zebrafish embryos. The embryos were observed over a 5 day period for defects in several different systems. The first screen examined 184 gene targets of which 26 demonstrated defects of interest (Pickart et al. 2006). A collaboration with the Verfaillie laboratory examined the knockdown of targets identified in a comparative microarray analysis of hematopoietic stem cells demonstrating how microarray and morpholino technologies can be used in conjunction to enrich for defects in specific developmental processes. Currently, many collaborations are underway to identify genes involved in morphological, kidney, skin, eye, pigment, vascular and hematopoietic development, lipid metabolism and more. The screen types referred to in the search functions are the specific areas of development that were examined during the various screens, which include behavior, general morphology, pigmentation, toxicity, Pax2 expression, and development of the craniofacial structures, eyes, kidneys, pituitary, and skin. Only data pertaining to specific tests performed are presented. Due to the complexity of this international collaboration and time constraints, not all morpholinos were subjected to all screen types. They are currently expanding public access to the database. In the future we will provide: * Mortality curves and dose range for each morpholino * Preliminary data regarding the effectiveness of each morpholino * Expanded annotation for each morpholino * External linkage of our morpholino sequences to ZFIN and Ensembl. To submit morpholino-knockdown results to MODB please contact the administrator for a user name and password.
Proper citation: Morpholino Database (RRID:SCR_001378) Copy
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