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http://phenotips.cs.toronto.edu/

A software tool providing a Web interface and a database back-end for collecting clinical symptoms and physical findings observed in patients with genetic disorders. The main goals of this software are * To allow for collecting patient data in standard formats, enabling effortless data exchange and automated search in annotated gene and disease databases, and * To provide advanced functionalities and a friendly user interface that help reduce the clinician''''s workload, permitting seamless use of this application within the clinician''''s routine. PhenoTips uses the Human Phenotype Ontology (HPO) to express clinical phenotypes, and provides a friendly interface with error-tolerant, predictive search of phenotypic descriptions. PhenoTips closely mirrors clinician workflows: observations can be recorded directly during the patient encounter, and the interface is compatible with any device that runs a modern Web browser. The clinician can record demographic information, family history, medical history, various standard measurements, phenotypic abnormalities detected in the patient, pertinent indications that were not observed and that can be helpful for differential diagnosis, relevant images depicting manifestations of the patient''''s disorders, and additional notes for each of these categories. The software automatically plots growth curves, selects phenotypes reflecting abnormal measurements, instantly finds OMIM disorders matching the phenotypic description and suggests other symptoms to investigate in order to reach a more accurate diagnosis.

Proper citation: PhenoTips (RRID:SCR_006340) Copy   

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http://www.sph.umich.edu/csg/abecasis/GOLD/

Software package that provides a graphical summary of linkage disequilibrium in human genetic data. The graphical summary is well suited to the analysis of dense genetic maps, where contingency tables are cumbersome to interpret. An interface to the Simwalk2 application allows for the analysis of family data.

Proper citation: Graphical Overview of Linkage Disequilibrium (RRID:SCR_007151) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29350&a=36311&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 29, 2016. Study to investigate symptoms of Attention Deficit Hyperactivity Disorder (ADHD) according to DSM-IV in adults with special focus on attention deficit. Information is used from the Swedish Twin study of Adults: genes and Environment (STAGE) from the Swedish Twin Registry. ADHD-discordant and concordant samples of pairs of twins for ADHD are selected from STAGE for studies of brain structure and function with Functional Magnetic Resonance Imaging (fMRI).

Proper citation: KI Biobank STAGE-ADHD (RRID:SCR_005921) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29328&a=31530&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. Longitudinal Assessment of Clinical Course and BIOmarkers in severe Chronic AIRway Disease (BIOAIR) is a study within the European Network For Understanding Mechanisms Of Severe Asthma (ENFUMOSA). BIOAIR study involves studies of severe asthma. The 10% of all asthmatics who have the most difficult disease has a 5-year survival in level with severe cancer diseases, as well as account for half of the costs to society of asthma. Mechanisms for the development of severe asthma, however, is unknown. BIOAIR the project characterizes clinical Phenotype and biomarkers in a study involving 12 centers in nine European countries. In a longitudinal study comparing severe asthmatics with mild asthmatics and patients with COPD (Chronic obstructive pulmonary disease). Clinical data and medicine consumption are collected daily in over a year with the help of modern IT technology. Blood tests, urine samples, upphostningsprover and bronkialbiopsier are collected repeatedly and tested for a wide range of possible pathogenetic factors, including genotype.

Proper citation: BIOAIR - BIOmarkers in severe Chronic AIRway Disease (RRID:SCR_006007) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29328&a=31532&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. Longitudinal studies that consist of more than 40 000 subjects that have been followed since 1986 to be used in studies on how hereditary factors influence the development and progression of Chronic Obstructive Pulmonary Disease (COPD). Its overall objective to find ??tg??rdbara determinants of especially asthma and COPD but also allergy and OSAS (obstructive sleep apnea syndrome). Research is carried out in two huvudforskningslinger; population studies among adults of asthma, allergies, COPD, chronic bronchitis and OSAS. The second main line of longitudinal studies on asthma and allergies among schoolchildren with measurement of incidence, remission and morbidity. The study followed annually all 3500 schoolchildren since 1996 when they went in first and second class in Kiruna, Lulea and Pitea. In addition to questionnaire studies contained in methods, as well as in the adult studies, mainly respiratory function, BMI, skin prick test and clinical interview. Main fragestallningen of risk factors for incident asthma and allergy.

Proper citation: OLIN - Obstructive Lung disease in Northern Sweden (RRID:SCR_006009) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29354&a=36389&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented September 2, 2016. The Swedish twin registry has recently examined all twins in Sweden born between 1959-1985. 25,000 individuals participated in the study. The twins had to implement a Web-based survey on the Internet or a telephone interview where we had to answer questions about, among other things, about the diseases they have, or have had, behaviors, eating and drinking habits, smoking habits, etc. The aim of the study is to extend the information in the Swedish twin registry. Our goal with twin studies are, inter alia, to study the relative importance of the heritage and environment for the emergence of various diseases. The responses from the study is currently the basis for a number of analyses regarding how inheritance and environment affects disease and tobacco habits. Currently third follow-up STAGE where 10,000 twins that had previously taken part are contacted again. The purpose of alteplase randomized controlled trials is to follow up the same individuals one year after the first and second questionnaire replies were received to see if anything has changed. The issues we are interested in the follow-up to include changes in general health, working and living situation, your weight, smoking habits, etc. Study Results The results we have so far come to and which we can present here are figures on the prevalence of certain diseases. The figures give a rough estimate of the incidence of these diseases will look for all individuals, born in Sweden in 1959-1985. The figures are based on the questions on the questionnaire which the twins themselves had to answer whether they have or have had various diseases.

Proper citation: KI Biobank - STAGE (RRID:SCR_006004) Copy   

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http://www.ncri.org.uk/ccb/index.html

The Confederation of Cancer Biobanks (CCB) is a consortium of organisations based in the UK that are involved in the development, management and use of biobank resources for cancer research. The Confederation aims to promote and disseminate a collective view on best practices for biobanks and to promote transfer of knowledge and experiences between banks. While individual banks retain their full autonomy, membership leads to mutual benefit, ensures complementarities, avoids unnecessary competition and ensures a coordinated approach to cancer biosample provision. This will benefit all involved by allowing the sharing of expertise and information, the establishment of harmonized standards for the operation of cancer biobanks and provide a means to access a larger pool of biosamples from the confederated banks. The initial achievements of the NCRI Confederation of Cancer Biobanks were the drafting of a Memorandum of Understanding for the founder members of the Confederation, and a document outlining the Guiding Principles for the management and operation of a tissue bank / biobank in the contemporary ethical and legal setting. Any organization based in the UK, which collects and distributes biosamples for cancer research (not necessarily in the UK), may apply to join. CCB Members receive: * access to the Members Area of the web site containing shared resources * inclusion in email discussion fora with other members * networking opportunities with other members * inclusion in a collective voice to research funders, policy makers, legislators and others * inclusion in the NCRI''s new on-line sample directory * one free registration for each CCB workshop * a future opportunity to pursue accreditation/quality endorsement for the bank * a potential future opportunity for your donors to join a donor forum, which provides patients/sample donors with a mechanism of keeping in touch with research biobanking activities.

Proper citation: Confederation of Cancer Banks (RRID:SCR_006885) Copy   

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http://ki.se/en/meb/the-child-and-adolescent-twin-study-in-sweden-catss

Data and biomaterial from a study investigating how both genetic and environmental effects influence health and behavior in children and adolescents. In this study parents to all Swedish twins turning 9 or 12 years are asked to complete a telephone interview concerning the health and behavior of their twins. The interview screens for several different health (e.g., asthma, allergies, diabetes) and behavior (e.g., attention, social interaction) problems. Some of the families will be followed up with additional questionnaires, as well as with genotyping and clinical interviews. The response frequency of the telephone interview is 80%. By November 2008, 7408 interviews had taken place. Types of samples * Saliva alt. EDTA whole blood * DNA Number of sample donors: 10 721 (June 2010)

Proper citation: CATSS - Child and Adolescent Twin Study in Sweden (RRID:SCR_005945) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29354&a=66742&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented on July 03, 2014. A study that is a follow-up of the CATSS study and includes 15-year old twins who have been identified with autism, ADHD, learning-, eating-, tics disorders, compulsion-, defiance-, conduct- or motor control problems. The study also includes the co-twin, controls and the parents. DNA will be collected from the twins and the parents. For the twins, both a saliva sample and capillary blood samples will be collected, and for the parents, a saliva sample will be collected. Types of samples * Saliva alt. capillary blood * DNA Number of sample donors: 764 (June 2010)

Proper citation: DOGSS (RRID:SCR_005946) Copy   

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http://www.alz.washington.edu/

A clinical research, neuropathological research and collaborative research database that uses data collected from 29 NIA-funded Alzheimer's Disease Centers (ADCs). The database consists of several datasets, and searches may be done on the entire database or on individual datasets. Any researcher, whether affiliated with an ADC or not, may request a data file for analysis or aggregate data tables. Requested aggregate data tables are produced and returned as soon as the queue allows (usually within 1-3 days depending on the complexity).

Proper citation: National Alzheimer's Coordinating Center (RRID:SCR_007327) Copy   

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http://ccr.coriell.org/nia/

A cell repository containing cells and DNA for studies of aging and the degenerative processes associated with it. Scientists use the highly-characterized, viable, and contaminant-free cell cultures from this collection for research on such diseases as Alzheimer's disease, progeria, Parkinson's disease, Werner syndrome, and Cockayne syndrome. The collections of the Repository include DNA and cell cultures from individuals with premature aging disorders, as well as DNA from individuals of advanced age from the the Baltimore Longitudinal Study of Aging at the Gerontology Research Center and other Longevity Collections. The Repository also includes samples from an Adolescent Study of Obesity, Apparently Healthy Controls, Animal Models of Aging, and both human and animal differentiated cell types. The cells in this resource have been collected over the past three decades using strict diagnostic criteria and banked under the highest quality standards of cell culture. Scientists can use the highly-characterized, viable, and contaminant-free cell cultures from this collection for genetic and cell biology research.

Proper citation: Aging Cell Repository (RRID:SCR_007320) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29354&a=31618&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. The aim of the study is to estimate the importance of genetic (primary) and environmental factors for economic behavior by conducting a series of standard behavioral economics experiments on a sample of twins from the Swedish Twin Registry.

Proper citation: KI Biobank - Economical Behavior (RRID:SCR_005934) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29332&a=103697&l=en

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 3rd,2023. Recently it has been discovered that specific Single Nucleotide Polymorphisms (SNPs) may elevate the risk of developing prostate cancer. This study aims at investigating whether it is possible to use these SNPs in a clinical setting in order to sharpen the diagnostic tools when investigating if a man has prostate cancer. By collecting blood from men who have undergone a needle biopsy of the prostate and do a SNP analysis of their genes and compare this with the result of the biopsy and PSA result we hope to be able to develop a test that is more specific than the routine that is being used today. Sample types: * EDTA whole blood * DNA Number of sample donors: 5321 (June 2010)

Proper citation: SPSAC - Stockholm PSA Cohort (RRID:SCR_006042) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29346&a=103574&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented September 2, 2016. Cardiovascular disease and periodontitis are common diseases, causing considerable suffering and costs. Despite strong links between the two diseases it is unclear if periodontitis causes cardiovascular disease. The primary aims are to investigate whether periodontitis is a risk factor for the development of myocardial infarction and if periodontitis increases the risk for new cardiovascular events such as myocardial infarction, stroke and death in patients with a previous myocardial infarction. PAROKRANK is a case control study. Cases (n=1500) are patients with a first myocardial infarction and controls population derived people without cardiovascular disease(n=1500). Both groups are subjected to predefined dental examinations, analyses of a variety of risk factors and a biobank of blood and dental samples will be established. Information is collected from available registries (RIKS-HIA and SEPHIA) and study specific records.

Proper citation: KI Biobank - PAROKRANK (RRID:SCR_006045) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29332&a=103566&l=en

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 3rd, 2023. The ICAP - Integrated analysis of prostate cancer study aims at identifying a set of biomarkers with high prognostic value for prostate cancer progression. These biomarkers will be used to customize treatment and to identify patients with high risk of recurrent disease. Sample types: * EDTA whole blood * DNA Number of sample donors: 505 (sample collection completed)

Proper citation: ICAP - Integrated analysis of prostate cancer (RRID:SCR_006035) Copy   

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http://ki.se/ki/jsp/polopoly.jsp?d=29332&a=103538&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. Libro-1 is a study with the overall aim to identify prognostic factors for breast cancer. The study comprise women in the Stockholm-Gotland region that were diagnosed with breast cancer between the years 2001-2008. Register data (tumor characteristics and treatment), lifestyle factors and blood samples have been collected from the participants.

Proper citation: LIBRO-1: Individualized prediction and prevention of breast cancer (RRID:SCR_006036) Copy   

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http://www.procap.ki.se/procap_studie_info.htm

PROCAP is a study of the importance of lifestyle and genetic factors in the progression of localized cancer of the prostate. Our study hypothesis is that the likelihood of disease recurrence of prostate cancer is modified or determined by genetic variation in the human genome and/or lifestyle factors. To be able to test our hypothesis, we are using a large, population-based cohort of men with localized prostate cancer in Sweden, recruited in 1997-2002, from which detailed clinical information and data on progression already have been collected. From this cohort, we are collecting lifestyle data and blood samples from 8,500 men. If men with progressive prostate cancer could be identified on their genetic make-up, they could be given additional therapies targeted specifically at prostate cancer progression or monitored even more frequently so that progressions could be treated even earlier. If lifestyle factors are important, these results have an impact on recommendations given to men with newly diagnosed prostate cancer. In the study, we are asking the study persons to fill in an Internet-based questionnaire focusing on diet and physical activity and we ask them to leave 2 test tubes of blood at their local urologist/health care center. The pilot study has recently been completed and evaluated and the remaining 7,500 men in the cohort will be included during 2007 and 2008. So far, we have a response rate of approximately 85% on the blood samples. The response rate for the questionnaire is approximately 80% (both in the web based and paper based versions combined). Genotyping and analysis will begin in the fall of 2008. Sample types: * EDTA whole blood * Plasma * DNA Number of sample donors: 5492 (sample collection completed)

Proper citation: KI Biobank - PROCAP (RRID:SCR_006038) Copy   

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http://ki.se/en/meb/cancer-of-the-prostate-in-sweden-caps

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 3rd,2023. We have completed the recruitment of this population-based prostate cancer case-control study, one of the largest prostate cancer case-control study populations available so far. This study population was recruited in two phases. The inclusion and exclusion criteria were the same for the first (CAPS1) and second phase (CAPS2), except for the timeframe. In total, 3,030 cases and 1,960 controls participated in CAPS donating blood samples and answering a questionnaire during 2001-2003. In addition we have detailed clinical information on all 3,000 cases. With data generated from CAPS we have 25 published papers and 10 manuscripts since 2004. During 2006 we completed a record linkage to the Cause of Death Registry to determine the cause of death for all participants. We could conclude that 347 of the cases in CAPS had died of prostate cancer. The CAPS study has provided data to several new studies on markers on prostate cancer progression. Sample types: * EDTA whole blood * DNA Number of sample donors: 5015 (sample collection completed)

Proper citation: Cancer of the Prostate in Sweden (CAPS) (RRID:SCR_006033) Copy   

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http://ki.se/imm/cefalo-studien

Saliva taken from participants in a study investigating the association between environmental exposures and brain tumors in children aged 7-19 years and the interaction between these risk factors and genetic polymorphisms, which may confer susceptibility to effects of exogenous agents. Sample types: * Saliva Number of sample donors: 886 (sample collection completed)

Proper citation: KI Biobank - CEFALO (RRID:SCR_006034) Copy   

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http://lasurvey.rand.org/

A dataset of a panel study of a representative sample of all neighborhoods and households in Los Angeles County, with poor neighborhoods and families with children oversampled, for investigating the social and economic determinants of health and race and ethnic disparities. The study follows neighborhoods over time, as well as children and families. Two waves have been conducted to date, in 2000-2001 (L.A.FANS 1) and again beginning in 2006 through early 2009 (L.A. FANS 2). L.A.FANS-2 will significantly enhance the utility of the L.A.FANS data for studies of adult health disparities by: 1) Replicating self-reported health measures from L.A.FANS-1 and collecting new self-reports on treatment, health behaviors, functional limitations, quality and quantity of sleep, anxiety, health status vignettes, and changes in health status since the first interview; 2) Collecting physiological markers of disease and health status, including diabetes, hypertension, obesity, lung function, immune function, and cardiovascular disease; and 3) Expanding the data collected on adults'' work conditions, stressful experiences, and social ties. Wherever possible, L.A.FANS uses well-tested questions or sections from national surveys, such as the Health and Retirement Study (HRS), Panel Study of Income Dynamics (PSID), National Longitudinal Surveys (NLS), and National Health Interview Survey (NHIS), and other urban surveys, such as the Project on Human Development in Chicago Neighborhoods, to facilitate comparisons. Data Availability: Public use data, study design, and questionnaire content from L.A.FANS are available for downloading. Researchers can also apply for a restricted use version of the L.A.FANS-1 data that contain considerable contextual and geographically-referenced information. Application procedures are described at the project Website. L.A.FANS-2 fieldwork was completed at the end of 2008. The PIs anticipate L.A.FANS-2 public use data will be released in summer 2009. * Dates of Study: 2000-2008 * Study Features: Longitudinal, Minority Oversamples, Anthropometric Measures, Biospecimens * Sample Size: ** 2000-1: 2,548 (L.A.FANS 1) ** 2006-8: ~3,600 (L.A.FANS 2) Link: * ICPSR: http://www.icpsr.umich.edu/icpsrweb/ICPSR/studies/00172

Proper citation: Los Angeles Family and Neighborhood Survey (RRID:SCR_008923) Copy   

•   Source: SciCrunch Registry