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http://ki.se/meb/stanley-studien

This study will include 5000 individuals recruited from The National Quality Register for Bipolar Disorder (Bipol��R) and The National Patient Register (Patientregistret) from which subjects with two or more hospitalizations with bipolar disorder will be eligible for inclusion. Bipolar disorder (manodepressive illness) is an often devastating neuropsychiatric disorder associated with considerable morbidity, mortality, human suffering, and societal costs. Genetic epidemiological studies provide indirect evidence of the importance of inheritance as bipolar disorder is clearly familial. Sample types * EDTA whole blood * DNA * Plasma Number of sample donors: 915 (June 2010)

Proper citation: KI Biobank - STANLEY (RRID:SCR_005922) Copy   

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http://ki.se/meb/star

Large, ongoing, multifactorial study based on nation-wide ascertainment of patients with schizophrenia and bipolar disorder through the Swedish Twin Registry to include both neuroimaging data, neurocognitive function, molecular genetic data and early adverse environmental factors in the same model in a genetic sensitive design. Swedish schizophrenia research will benefit from this large study database of in total 240 affected and healthy twin pairs collected over a 5 year period. The specific aims are: * To elucidate neural endophenotypes for schizophrenia and bipolar disorder and to clarify the extent of overlap in these features between the two syndromes. * To investigate candidate genes and genomic regions for linkage and association with neural endophenotypes for schizophrenia and bipolar disease. * To determine the contributions of adverse prenatal and perinatal conditions to neural changes associated with schizophrenia and bipolar disease. Types of samples * EDTA whole blood * DNA * RNA Number of sample donors: 251 (June 2010)

Proper citation: KI Biobank - STAR (RRID:SCR_005923) Copy   

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http://www.mds.qmw.ac.uk/statgen/dcurtis/software.html

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 11, 2023. A pedigree drawing program using LINKAGE data files (entry from Genetic Analysis Software)

Proper citation: PEDRAW/WPEDRAW (RRID:SCR_004797) Copy   

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http://biostatistics.mdanderson.org/SoftwareDownload/

Software application for power and sample-size calculations for the TDT and ASP tests under a wide variety of ascertainment schemes. Uses the flexible genetic model of McGinnis. Most calculations are exact rather than asymptotic. (entry from Genetic Analysis Software)

Proper citation: TDTASP (RRID:SCR_004943) Copy   

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http://ki.se/en/meb/twingene-and-genomeeutwin

In collaboration with GenomeEUtwin, the TwinGene project investigates the importance of quantitative trait loci and environmental factors for cardiovascular disease. It is well known that genetic factors are of considerable importance for some familial lipid syndromes and that Type A Behavior pattern and increased lipid levels infer increased risk for cardiovascular disease. It is furthermore known that genetic factors are of importance levels of blood lipid biomarkers. The interplay of genetic and environmental effects for these risk factors in a normal population is less well understood and virtually unknown for the elderly. In the TwinGene project twins born before 1958 are contacted to participate. Health and medication data are collected from self-reported questionnaires, and blood sampling material is mailed to the subject who then contacts a local health care center for blood sampling and a health check-up. In the simple health check-up, height, weight, circumference of waist and hip, and blood pressure are measured. Blood is sampled for DNA extraction, serum collection and clinical chemistry tests of C-reactive protein, total cholesterol, triglycerides, HDL and LDL cholesterol, apolipo��protein A1 and B, glucose and HbA1C. The TwinGene cohort contains more than 10000 of the expected final number of 16000 individuals. Molecular genetic techniques are being used to identify Quantitative Trait Loci (QTLs) for cardiovascular disease and biomarkers in the TwinGene participants. Genome-wide linkage and association studies are ongoing. DZ twins have been genome-scanned with 1000 STS markers and a subset of 300 MZ twins have been genome-scanned with Illumina 317K SNP platform. Association of positional candidate SNPs arising from these genomscans are planned. The TwinGene project is associated with the large European collaboration denoted GenomEUtwin (www.genomeutwin.org, see below) which since 2002 has aimed at gathering genetic data on twins in Europe and setting up the infrastructure needed to enable pooling of data and joint analyses. It has been the funding source for obtaining the genome scan data. Types of samples: * EDTA whole blood * DNA * Serum Number of sample donors: 12 044 (sample collection completed)

Proper citation: KI Biobank - TwinGene (RRID:SCR_006006) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29354&a=103615&l=en

THIS RESOURCE IS NO LONGER IN SERVCE, documented September 2, 2016. The SALTY study will contact approximately 25 000 twins born 1943 - 1958. One of the main purposes with the study is to continue to build up the Swedish Twin Biobank which was established by the Twin Gene project.

Proper citation: KI Biobank - SALTY (RRID:SCR_006003) Copy   

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http://genomics.med.upenn.edu/spielman/TDT.htm

Software program that provides separate results for TDT, S-TDT, and the combined (overall) test, as appropriate. (entry from Genetic Analysis Software)

Proper citation: TDT/S-TDT (RRID:SCR_005548) Copy   

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http://systemsbio.ucsd.edu/GoSurfer/

GoSurfer uses Gene Ontology (GO) information to analyze gene sets obtained from genome-wide computations or microarray analyses. GoSurfer is a graphical interactive data mining tool. It associates user input genes with GO terms and visualizes such GO terms as a hierarchical tree. Users can manipulate the tree output by various means, like setting heuristic thresholds or using statistical tests. Significantly important GO terms resulted from a statistical test can be highlighted. All related information are exportable either as texts or as graphics. Platform: Windows compatible

Proper citation: GoSurfer (RRID:SCR_005789) Copy   

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http://ki.se/forskning/kol-vaxande-epidemi-i-rokningens-spar

Aims to explore heritability for clinically confirmed chronic obstructive lung disease (COPD), estimate the heritability for lung function and investigate interactions between smoking and genes including the genetic effect on smoking habits. Study participants have been recruited from the Swedish Twin Registry. Types of samples * EDTA whole blood * DNA * Plasma * Serum Number of sample donors: 386 (sample collection completed)

Proper citation: KI Biobank - KOL (RRID:SCR_005782) Copy   

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http://ki.se/en/meb/satsa-the-swedish-adoptiontwin-study-of-aging

Longitudinal twin study to understand individual differences in aging with corresponding data and biological samples. The twin design and the inclusion of twins reared apart makes it possible to study the importance of genetic and environmental factors that may underlie differing aging outcomes. Further, the broad spectrum of biological, psychological, and social domains assessed across the life span makes it possible to study patterns of change within and across domains and how these predict health and diseases of aging. The study is comprised of several longitudinal components including, a comprehensive questionnaire that was sent to all twins in the Swedish Twin Registry who were separated at an early age and reared apart and a control sample of twins reared together. The questionnaires include items concerning rearing, family, adult, and working environment, health status, health related behaviors (e.g. alcohol, tobacco, and dietary habits) as well as relationships, and personality measures. The questionnaires were sent again at 3 year intervals in 1987, 1990, 1993 and after a break again in 2004, 2007, and 2010. Thus far more than 2,000 twins have responded to at least one of the seven questionnaire assessments conducted between 1984 and 2010. Additionally there is information about midlife life style factors from the Swedish Twin Registry that were collected about twenty years before SATSA started. In the second component a subsample of 861 individuals have participated in at least one wave of in-person testing (IPT). The first IPT started in 1986 and since then eight IPTs have been collected and the last wave will be collected during 2012-2013. The IPT includes a health examination, structured interviews, tests of functional capacity, and memory and thinking abilities. To date, over 76% of the sample has participated in 3 or more measurement waves. At IPT9 a third component was added to SATSA, a measure of day-to-day fluctuations in memory and thinking abilities, and emotions. Information about social interactions is also collected. After the visit by the research nurses the twins fill out the day-to-day booklet during the next five days. This procedure will be repeated in IPT10. This will add information about small and short-term changes and more changes are supposed to indicate the beginning of poor health. Data from SATSA can be used to study various aspects of aging. For example, the relative importance of genetic and environmental factors for individual differences in aging especially in cognitive and physical domains has been studied. A further main focus is to study changes within and across domains and which genetic and life style factors predict these changes. Given the wide spectrum of data from measured genes to social relationships collected over more than two decades they dare to say that SATSA is a unique study, with the possibility to answer many questions within gerontology and geriatrics. Types of samples * Serum * DNA Number of sample donors: 674 (June 2010)

Proper citation: KI Biobank - SATSA (RRID:SCR_005966) Copy   

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http://cgi.uc.edu/cgi-bin/kzhang/haploBlockFinder.cgi

Software package for haplotype block identification, visualization and htSNP selection. It can also compare the haplotype block structure with local LD pattern. The program can be either run as a web service, or standalone executables on local machine. (entry from Genetic Analysis Software)

Proper citation: HAPLOBLOCKFINDER (RRID:SCR_005844) Copy   

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http://courses.jax.org/2012/addiction.html

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. This course emphasizes genetic applications and approaches to drug addiction research through methodological instruction based on literature, data sets and informatics resources drawn from studies of addiction related phenotypes. The course includes plenary sessions on major progress in addiction genetics, and discussion sessions in which students present their work for discussion on applications of genetic methods. Students will leave the course able to design and interpret genetic and genomic studies of addiction as they relate to their specific research question, and will be able to make use of current bioinformatics resources to identify research resources and make use of public data sources in their own research.

Proper citation: Short Course on the Genetics of Addiction (RRID:SCR_005560) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29346&a=31622&l=en

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 3rd,2023. Secondary prevention of ischemic heart disease in primary care, a randomized controlled intervention study. The study aims to elucidate if an early, active, group-oriented intervention at the primary care level can decrease the probability of developing a new cardiovascular event within three years, when compared to primary care according to standard protocols. The study also aims at analyzing how the intervention affects parameters as physical activity, eating habits, quality of life, blood pressure, waist measure, and smoking habits. Furthermore, changes in biochemical markers related to glucose- and lipid metabolism, stress related hormone production and sub clinic inflammatory activity as well as the presence of DNA polymorphism in the IL-6- and adiponutrin (ADPN) genes, will be investigated. Types of samples * EDTA whole blood * DNA Number of sample donors: 102 (sample collection completed)

Proper citation: KI Biobank - Sodertaljehjartan (RRID:SCR_006047) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29332&a=23686&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 22, 2016. The original aim of this study was to increase our understanding of the etiology of malignant lymphomas, especially in view of the increasing trend in incidence. Malignant lymphoma (including non-Hodgkin lymphoma, NHL, Hodgkin lymphoma, HL, and chronic lymphocytic leukemia, CLL) constitute a heterogeneous group of malignancies with regard to histology, molecular characteristics and clinical course. Etiological factors may also vary by lymphoma subtype. The incidence of NHL, the most common lymphoma group, has increased dramatically during the past decades in Sweden and in many other Western countries. The reasons for this increase as well as for the majority of all new cases is not well understood. Well established risk factors for lymphoma overall include hereditary and acquired disorders of strong immune dysfunction such as HIV/AIDS and organ transplantation, but they explain few new cases in the population. Approach: Population-based case-control study in Sweden and Denmark. The study includes in total 3740 patients and 3187 controls in both countries recruited during the period October 1999 to October 2002. Through a rapid case ascertainment system, the cases were identified shortly after diagnosis. The controls were randomly selected from national population registers and frequency-matched to the expected number of cases by sex and age group. Both cases and controls were interviewed by telephone based on a standardized questionnaire to obtain detailed information on potential risk factors for lymphoma such as medical history including infectious diseases, drug use and blood transfusions, socio-economic factors and life-style. Blood samples were also collected and stored as serum, plasma, DNA and live lymphocytes. In addition, written questionnaires about dietary habits or work exposures were sent out in Sweden. Tumor material from the cases was re-examined and uniformly classified according to the REAL classification. Status The data collection ended in 2002 and data analysis has been ongoing since then. We have primarily analyzed a range of environmental factors in relation risk of malignant lymphoma subgroups including sun exposure, body mass index, family history of hematopoietic cancer, allergy, autoimmune disorders and mononucleosis. We have also assessed specific genetic determinants in a subgroups of patients with follicular lymphoma and controls. Study results have so far been presented in 14 publications in peer-reviewed journals. In addition to new analyses on other environmental factors, we now also work to understand genetic susceptibility and gene-environmental interaction and risk of lymphoma. Also, prognostic studies have been initiated in collaboration with other research groups with regard to in CLL, HL and T-cell lymphoma.

Proper citation: SCALE - Scandinavian lymphoma etiology (RRID:SCR_006041) Copy   

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http://www.stats.ox.ac.uk/%7Emarchini/software.html

An R package that specifically focuses on statistical and population genetics methods. The motivation behind the package is to produce an easy to use interface to many of the commonly used methods and models used in statistical and population genetics and an alternative interface for some of the methodology produced by our group. (entry from Genetic Analysis Software)

Proper citation: POPGEN (RRID:SCR_007315) Copy   

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https://www.nugene.org/

Collects and stores genetic (DNA) samples along with associated healthcare information from patients of Northwestern-affiliated hospitals and clinics. This resource is available to scientists to conduct groundbreaking genetic research. The information and blood samples provided will be used by researchers to examine the role genes play in the development and treatment of common diseases. The NUgene Project seeks to increase the understanding of genetic mechanisms underlying common diseases, assist in the development of DNA-based technology for diagnosis and treatment of disease, and aid physicians and other healthcare providers in the application of genetics to the practice of medicine. NUgene participants are recruited throughout the Northwestern-affiliated healthcare community in order to create an ethnically and medically diverse population for research. Participants must be 18 years of age or older and receive their medical care from a Northwestern-affiliated provider, regardless of health status. Consenting individuals complete all aspects of enrollment in a single meeting with a research coordinator. The enrollment process includes the donation of a single sample of blood and the completion of a self-administered questionnaire. Participants also sign a consent form during this encounter. The NUgene Project is an interdisciplinary project that relies on the expertise of individuals working in a variety of fields, including science, medicine, clinical research, statistics, epidemiology, and computational biology. NUgene''s multidisciplinary approach has spurred collaborations within Northwestern-affiliated institutions and with other outside institutions. This collaboration of ideas is the future of genetics and genomic research., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: NUgene Project (RRID:SCR_007426) Copy   

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http://www.stats.ox.ac.uk/~mcvean/LDhat/

Software package for the analysis of recombination rates from population genetic data (entry from Genetic Analysis Software)

Proper citation: LDHAT (RRID:SCR_006298) Copy   

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https://varscan.sourceforge.net/

Platform-independent, technology-independent software tool for identifying SNPs and indels in massively parallel sequencing of individual and pooled samples. Given data for a single sample, VarScan identifies and filters germline variants based on read counts, base quality, and allele frequency. Given data for a tumor-normal pair, VarScan also determines the somatic status of each variant (Germline, Somatic, or LOH) by comparing read counts between samples. (entry from Genetic Analysis Software).

Proper citation: VarScan (RRID:SCR_006849) Copy   

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The record is no longer available at this source.

Software application that is part of the LINKAGE auxiliary programs (entry from Genetic Analysis Software)

Proper citation: LSP (RRID:SCR_007059) Copy   

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http://bios.ugr.es/~mabad/rTDT/index.html

Software application (entry from Genetic Analysis Software)

Proper citation: RTDT (RRID:SCR_007336) Copy   

•   Source: SciCrunch Registry