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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   

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http://knhi.de/en/network/

Association of physicians, scientists, academics, research institutes and self-help groups that provides and nurtures interdisciplinary cooperation between research and primary, secondary and tertiary health care. Many internationally renowned heart failure researchers and working groups live and work in Germany. Nevertheless, there is insufficient cooperation of the respective working groups and research projects in this area. In order to remain internationally competitive in the heart failure research community, excellent implementation of large scale clinical and genetic trials is indispensable. Further, deficits in the effective presentation and transfer of research findings into clinical practice need to be addressed. An adequate translation of guidelines into practical, tangible instructions can facilitate clinical practice both in primary and tertiary care fundamentally. The need for action to address the research-practice-gap is obvious.

Proper citation: Competence Network Heart Failure (RRID:SCR_004979) Copy   

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http://www.ncbi.nlm.nih.gov/gtr/

Central location for voluntary submission of genetic test information by providers including the test''s purpose, methodology, validity, evidence of the test''s usefulness, and laboratory contacts and credentials. GTR aims to advance the public health and research into the genetic basis of health and disease. GTR is accepting registration of clinical tests for Mendelian disorders, complex tests and arrays, and pharmacogenetic tests. These tests may include multiple methods and may include multiple major method categories such as biochemical, cytogenetic, and molecular tests. GTR is not currently accepting registration of tests for somatic disorders, research tests or direct-to-consumer tests.

Proper citation: Genetic Testing Registry (RRID:SCR_005565) 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://www.genomeutwin.org/index.htm

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 29, 2016. Study of genetic and life-style risk factors associated with common diseases based on analysis of European twins. The population cohorts used in the Genomeutwin study consist of Danish, Finnish, Italian, Dutch, English, Australian and Swedish twins and the MORGAM population cohort. This project will apply and develop new molecular and statistical strategies to analyze unique European twin and other population cohorts to define and characterize the genetic, environmental and life-style components in the background of health problems like obesity, migraine, coronary heart disease and stroke, representing major health care problems worldwide. The participating 8 twin cohorts form a collection of over 0.6 million pairs of twins. Tens of thousands of DNA samples with informed consents for genetic studies of common diseases have already been stored from these population-based twin cohorts. Studies targeted to cardiovascular traits are now being undertaken in MORGAM, a prospective case-cohort study. MORGAM cohorts include approximately 6000 individuals, drawn from population-based cohorts consisting of more than 80 000 participants who have donated DNA samples.

Proper citation: GenomEUtwin (RRID:SCR_002843) Copy   

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https://www.apbenson.com/cyrillic-downloads

Software application for pedigree drawing with fully integrated risk analysis and support for industry standard databases (MS Access and Corel Paradox). It is designed for genetic counselors and others who work with patients. Cyrillic 2 draws pedigrees, works with genetic marker data, lets you do haplotyping and allows exports to a range of linkage analysis packages.

Proper citation: CYRILLIC (RRID:SCR_001823) Copy   

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http://www.geenivaramu.ee/en/

The Estonian Biobank is the population-based biobank of the EGCUT. The project is conducted in accordance with the Estonian Genes Research Act and all participants have signed a broad informed consent form (www.biobank.ee and Metspalu 2004, Drug Dev. Res.). As of December 2011, the biobank contains 51,515 participants (gene donors). The database of genotypic, phenotypic, health and genealogical information represents about 5% of Estonia''s adult population, and is the largest cohort ever gathered in Estonia. The age, sex and geographical distribution of this cohort reflect the structure of the adult population in Estonia. The database enables to conduct research in order to find links between genes, environmental factors, lifestyles and complex diseases or other traits. Active use of the biobank has started and although the first users are researchers all over the world with hundreds of different projects currently underway, industry is also interested. At the international level, the EGCUT will join the BBMRI follow-up program (ERIC) and through this channel provide service (biobanking, genotyping, sequencing and data analysis) for the centers in Europe who need it. Currently, the first follow-up study is underway and the molecular information of the cohort will be increased. For example, we have over 12 000 DNA samples analyzed by high density genotyping arrays and over 10 000 plasma samples analyzed by NMR scans, over 1000 individuals with RNA expression arrays, 2000 individuals with clinical laboratory analysis (over 40 tests) and over 60 full genomes are under deep sequencing. The infrastructure of the EGCUT includes a laboratory for DNA genotyping and next generation sequencing all based on Illumina platforms (HiScanSQ, HiSeq2000 and robotics), an IT unit (databases) with required computing power and storage space (1.2PB), data analysis team (bioinformatics and statistical genetics) and last but not least, a patient recruitment unit (health records, lifestyle and environmental information and biological samples ����?����������?? DNA, plasma and WBC from all 51515 gene donors). This is all located on 1000m2 in a brand new laboratory building, Riia str 23, Tartu, Estonia.

Proper citation: Estonian Genome Center (RRID:SCR_004467) Copy   

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http://ccr.coriell.org/Sections/Collections/NINDS/?SsId=10

Open resource of biological samples (DNA, cell lines, and other biospecimens) and corresponding phenotypic data to promote neurological research. Samples from more than 34,000 unique individuals with cerebrovascular disease, dystonia, epilepsy, Huntington's Disease, motor neuron disease, Parkinsonism, and Tourette Syndrome, as well as controls (population control and unaffected relatives) have been collected. The mission of the NINDS Repository is to provide 1) genetics support for scientists investigating pathogenesis in the central and peripheral nervous systems through submissions and distribution; 2) information support for patients, families, and advocates concerned with the living-side of neurological disease and stroke.

Proper citation: NINDS Repository (RRID:SCR_004520) Copy   

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http://epi.helmholtz-muenchen.de/kora-gen/index_e.php

KORA-gen is infrastructure to provide phenotypes, genotypes and biosamples for collaborative genetic epidemiological research. From all four surveys that have been conducted so far, the following biological material is on hand: genomic DNA, blood serum, blood plasma and EBV immortalized cell lines (form KORA S4 only). These have been extracted from blood samples and are stored in nitrogen tanks and -80 degrees C refrigerators. Genomic DNA from more than 18.000 adult subjects from Augsburg and the surrounding counties is available at present. So far, EBV immortalized cell lines from 1.600 participants are cultivated. To meet the manifold demands of researchers with genetic and molecular questions KORA-gen fulfills the following prerequisites for successful genetic-epidemiological research: * representative samples from the general population, * well characterized disease phenotypes and intermediate phenotypes, * information on environmental factors, * availability of genomic DNA, serum, plasma and urine, as well as EBV immortalized cell lines. In total, four population based health surveys have been conducted between 1984 and 2000 with 18000 participants in the age range of 25 to 74 years, and a biological specimen bank was established in order to enable scientists to perform epidemiologic research with respect to molecular and genetic questions. The KORA study center conducts regular follow-up investigations and has collected a wealth of information on sociodemography, general medical history, environmental factors, smoking, nutrition, alcohol consumption, and various laboratory parameters. This unique resource will be increased further by follow-up studies of the cohort. The assessment of statistical questions covers the definition of the study design and the calculation of statistical power. Furthermore, we offer assistance in data analysis. Kora-gen can be used by external partners. Interested parties can inform themselves interactively via internet about the available data and rules of access. The genotypic data base is a common resource to all partners.

Proper citation: KORA-gen (RRID:SCR_004510) Copy   

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

Software application that is a stepwise approach to identifying recombination breakpoints in a sequence alignment (entry from Genetic Analysis Software)

Proper citation: R/STEPWISE (RRID:SCR_007420) Copy   

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http://www.gaworkshop.org/

The Genetic Analysis Workshops (GAWs) are a collaborative effort among genetic epidemiologists to evaluate and compare statistical genetic methods. For each GAW, topics are chosen that are relevant to current analytical problems in genetic epidemiology, and sets of real or computer-simulated data are distributed to investigators worldwide. Results of analyses are discussed and compared at meetings held in even-numbered years. The GAWs began in 1982 were initially motivated by the development and publication of several new algorithms for statistical genetic analysis, as well as by reports in the literature in which different investigators, using different methods of analysis, had reached contradictory conclusions. The impetus was initially to determine the numerical accuracy of the algorithms, to examine the robustness of the methodologies to violations of assumptions, and finally, to compare the range of conclusions that could be drawn from a single set of data. The Workshops have evolved to include consideration of problems related to analyses of specific complex traits, but the focus has always been on analytical methods. The Workshops provide an opportunity for participants to interact in addressing methodological issues, to test novel methods on the same well-characterized data sets, to compare results and interpretations, and to discuss current problems in genetic analysis. The Workshop discussions are a forum for investigators who are evolving new methods of analysis as well as for those who wish to gain further experience with existing methods. The success of the Workshops is due at least in part to the focus on specific problems and data sets, the informality of sessions, and the requirement that everyone who attends must have made a contribution. Topics are chosen and a small group of organizers is selected by the GAW Advisory Committee. Data sets are assembled, and six or seven months before each GAW, a memo is sent to individuals on the GAW mailing list announcing the availability of the GAW data. Included with the memo is a short description of the data sets and a form for requesting data. The form contains a statement to be signed by any investigator requesting the data, acknowledging that the data are confidential and agreeing not to use them for any purpose other than the Genetic Analysis Workshop without written permission from the data provider(s). Data are distributed by the ftp or CD-ROM or, most recently, on the web, together with a more complete written description of the data sets. Investigators who wish to participate in GAW submit written contributions approximately 6-8 weeks before the Workshop. The GAW Advisory Committee reviews contributions for relevance to the GAW topics. Contributions are assembled and distributed to all participants approximately two weeks before the Workshop. Participation in the GAWs is limited to investigators who (1) submit results of their analyses for presentation at the Workshop, or (2) are data providers, invited speakers or discussants, or Workshop organizers. GAWs are held just before the meetings of the American Society of Human Genetics or the International Genetic Epidemiology Society, at a meeting site nearby. We choose a location that will encourage interaction among participants and permit an intense period of concentrated work. The proceedings of each GAW are published. Proceedings from GAW16 were published in part by Genetic Epidemiology 33(Suppl 1), S1-S110 (2009) and in part by Biomed Central (BMC Proceedings, Volume 3, Supplement 7, 2009). Sponsors: GAW is funded by the Southwest Foundation for Biomedical Research.

Proper citation: Genetic Analysis Workshop (RRID:SCR_008350) Copy   

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http://zgc.nci.nih.gov/

Part of zebrafish genome project. ZGC project to produce cDNA libraries, clones and sequences to provide complete set of full-length (open reading frame) sequences and cDNA clones of expressed genes for zebrafish. All ZGC sequences are deposited in GenBank and clones can be purchased from distributors of IMAGE consortium. With conclusion of ZGC project in September 2008, GenBank records of ZGC sequences will be frozen, without further updates. Since definition of what constitutes full-length coding region for some of genes and transcripts for which we have ZGC clones will likely change in future, users planning to order ZGC clones will need to monitor for these changes. Users can make use of genome browsers and gene-specific databases, such as UCSC Genome browser, NCBI's Map Viewer, and Entrez Gene, to view relevant regions of genome (browsers) or gene-related information (Entrez Gene).

Proper citation: Zebrafish Gene Collection (RRID:SCR_007054) Copy   

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http://wpicr.wpic.pitt.edu/WPICCompGen/fdr/

Software application (entry from Genetic Analysis Software)

Proper citation: WEIGHTED FDR (RRID:SCR_013442) Copy   

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http://mmrrc.ucdavis.edu/

Center that imports, archives, maintains, and distributes mutant mouse alleles as live mice, frozen germplasm, stem cells, and molecular vectors for use in biomedical research. The MMRRC Davis receives transgenics, knockouts, and other kinds of mutant mouse lines at no cost to the donor, and after re-derivation and cryopreservation, distributes breeding stock, germplasm, cells, or tissues of genetically-defined and pathogen-free mice for a small fee to requesting investigators.

Proper citation: University of California at Davis Mutant Mouse Resource and Research Center (RRID:SCR_016448) Copy   

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http://www.mmrrc.missouri.edu/

Center that supplies mice and conducts research projects focused on the role of mice as animal models. Some of these projects include refinement of models to ensure study reproducibility, as well as development and improvement of economical methods for cryopreservation of mouse strains.

Proper citation: Mutant Mouse Resource and Research Center - University of Missouri (RRID:SCR_016447) 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 to compute composite measures of linkage disequilibrium, their variances and covariances, and statistical tests, for all pairs of alleles from two loci when linkage phase is unkown. An extension of Weir and Cockerham (1989) to apply to multi-allelic loci. (entry from Genetic Analysis Software)

Proper citation: COMPOSITELD (RRID:SCR_013132) Copy   

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http://www.vet.upenn.edu/research/core-resources-facilities/referral-center-for-animal-models

Center that aims to discover, characterize, maintain breeding colonies, and make available dog and cat models with hereditary diseases homologous to those found in human patients that can be used to translate preclinical trials from kennel to clinic. The animal models represent true orthologs of their respective human disease, involving defects in homologous genes resulting in similar molecular, biochemical, pathological, and clinical phenotype as in human patients.

Proper citation: Referral Center for Animal Models of Human Genetic Diseases (RRID:SCR_016453) Copy   

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http://csbio.unc.edu/CCstatus/index.py

Core focused on systems genetics approach to understanding diseases, development, aging, and fertility in mouse. Projects range from development of new community resources, such as Collaborative Cross, to development of tools and assays for measuring genetic diversity and discerning genomic structure. Collaborative Cross is reference population for mapping multigenic traits that would be free of population structure and it is new panel of recombinant inbred lines generated by randomizing genetic diversity of existing inbred mouse resources.

Proper citation: University of North Carolina Systems Genetics Core Facility (RRID:SCR_016401) Copy   

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http://bpc.facilities.northwestern.edu

Facility dedicated to help to determine behavioral effects of genetic manipulations, potential pharmaceuticals, aging, and other manipulations upon normal behavior, and learning and memory capacities of rodents used as model systems. Provides mouse and rat stereotaxic surgery, helps design behavioral studies.

Proper citation: Northwestern University Behavioral Phenotyping Core Facility (RRID:SCR_017765) Copy   

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http://cbl-gorilla.cs.technion.ac.il/

A tool for identifying and visualizing enriched GO terms in ranked lists of genes. It can be run in one of two modes: * Searching for enriched GO terms that appear densely at the top of a ranked list of genes or * Searching for enriched GO terms in a target list of genes compared to a background list of genes.

Proper citation: GOrilla: Gene Ontology Enrichment Analysis and Visualization Tool (RRID:SCR_006848) Copy   

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