Tools   Select Another Resource Report Type

http://ki-su-arc.se/dementia-in-swedish-twins-harmony/

A twin study characterizing the importance of genetic factors for dementia and using discordant twin pairs to study other putative risk factors which control for genetic propensity to develop the disease. Molecular genetic studies have identified a number of mutations and other markers associated with early age of onset Alzheimer''''s disease. However, most cases of late age of onset dementia are considered sporadic, that is, without a clear genetic basis. Twin studies provide a unique opportunity to characterize the importance of genetic factors for dementia. Discordant twin pairs additionally provide the opportunity to study other putative risk factors which controlling for genetic propensity to develop the disease. In the first wave of the Study of Dementia in Swedish Twins, all SATSA twins born before 1935 have been screened for dementia symptoms. Over 190 suspects have been identified. This pilot study has been expanded to the entire registry in the study known as HARMONY. All twins aged 65 and older were invited to participate in a computer assisted telephone screening interview. A total of 13,519 individuals completed the interview (response rate = 75.9%). Dementia screening was based on the TELE, which includes the 10-item MSQ, other cognitive items (counting backwards, recalling three words, and similarities), and questions about health and daily functioning; or on Blessed scores obtained from a proxy interview. Among those screened, 1565 were positive for suspicion of dementia and were referred for complete clinical evaluation by a physician and a nurse. Once the preliminary in-person evaluation suggested that the suspected case was demented, the twin partner was also invited for an identical clinical work-up. Response rate for clinical evaluations is 71.4%. Approximately half of those visited for evaluation have been diagnosed as demented according to DSM-IV criteria, of which two-thirds have Alzheimer''''s disease. An extensive assessment of probable risk exposure is also included. Longitudinal follow-up is yet another feature of the study. Association studies with candidate genes are also being performed. Types of samples * DNA Number of sample donors * 1154 (sample collection completed)

Proper citation: KI Biobank - HARMONY (RRID:SCR_008884) Copy   

•   Source: SciCrunch Registry

http://krunch.med.yale.edu/haplo/

Software application that estimates frequencies of multi-site haplotypes using the EM algorithm (entry from Genetic Analysis Software)

Proper citation: HAPLO 2 (RRID:SCR_009059) Copy   

•   Source: SciCrunch Registry

http://ki.se/en/research/the-swedish-twin-registry-1

The Swedish Registry was established in the 1960s to study how smoking affects our health. Then little was known about the dangers of smoking. There is, at present, information on approximately 85 000 twin pairs, both monozygotic and dizygotic. As described by Lichtenstein et al., 2002, Pedersen et al., 2002 and Lichtenstein et al., 2006, the Swedish Twin Registry (STR) is the largest and most comprehensive twin registry in the world. Founded in 1961, the registry covers all like-sexed twin births since 1886, and all twin births (like- and unlike-sexed) since 1906. There are currently 89,000 pairs of twins registered, of which both members of 65,000 pairs are alive, with regular updates concerning vital status, addresses, hospital discharges, tumors, and causes of death, through subscriptions to national registries. Furthermore, there is extensive epidemiological data (exposures, symptoms and disease through questionnaires or interviews) on all pairs born 1986 or earlier, for most individuals involving 30 year baseline to follow-up information. Furthermore, data from the cohort of twins born since 1991 have been or will be contacted with a telephone interview with the parents of twins as they turn 9 (CATSS). Because the STR is an (inter)national resource, we are receptive to collaboration academic and industry-based researchers. Regardless of the type of research all potential collaborations or data access agreements must be first reviewed Steering Committee of the STR.

Proper citation: Swedish Twin Registry (RRID:SCR_008883) Copy   

•   Source: SciCrunch Registry

https://dsgweb.wustl.edu/aldi/software/manuals/unphased/Unphased_manual.pdf

THIS RESOURCE IS NO LONGER IN SERVCE, documented September 22, 2016. A suite of programs for association analysis of multilocus haplotypes from unphased genotype data. These include TDTPHASE for case-parent trios, COCAPHASE for case/control data, QTPHASE for quantitative traits in unrelateds, PDTPHASE for general pedigrees, and QPDTPHASE for quantitative traits in general pedigrees. Features include global and individual haplotype tests, main effects and conditional tests, grouping of rare haplotypes, pairwise comparisons of haplotype risk, flexible permutation procedures and calculation of LD measures.

Proper citation: UNPHASED (RRID:SCR_009056) Copy   

•   Source: SciCrunch Registry

http://dceg.cancer.gov/tools/design/power

Windows-based program for computation of sample size and power for binary outcome studies (case-control and cohort studies) based on a logistic-like regression model with one covariate or two covariates (e.g., gene-exposure interactions). (entry from Genetic Analysis Software)

Proper citation: POWER (RRID:SCR_009057) Copy   

•   Source: SciCrunch Registry

http://www.jenti.org

An efficient tool for mining complex inbred genealogies that identify clusters of individuals sharing the same expected amount of relatedness is described. Additionally it allows for the reconstruction of sub-pedigrees suitable for genetic mapping in a systematic way. (entry from Genetic Analysis Software)

Proper citation: JENTI (RRID:SCR_009053) Copy   

•   Source: SciCrunch Registry

https://github.com/gaow/genetic-analysis-software/blob/master/pages/COMBIN.md

Software application designed for the construction of highly saturated linkage maps, based on BC1, DH, Radiation Hybrid or CP (CrossPollinators) data sets. F2 is not supported. (entry from Genetic Analysis Software)

Proper citation: COMBIN (RRID:SCR_009050) Copy   

•   Source: SciCrunch Registry

http://cmpg.unibe.ch/software/arlequin3/

An exploratory population genetics software environment able to handle large samples of molecular data (RFLPs, DNA sequences, microsatellites), while retaining the capacity of analyzing conventional genetic data (standard multi-locus data or mere allele frequency data). (entry from Genetic Analysis Software)

Proper citation: ARLEQUIN (RRID:SCR_009051) Copy   

•   Source: SciCrunch Registry

https://github.com/gaow/genetic-analysis-software/blob/master/pages/GRONLOD.md

Conversion programs from LINKAGE files are available. The program uses peeling and can employ nested conditioning. There is an automatic peeling program that will unravel (multiple) loops. Alleles do not need to be recoded, so real allele sizes can be used. Genotype probabilities for a chosen person can be calculated for purposes of genetic risk calculation. Later versions include one for calculations using linked markers and mutations and mosaicism, made by Martin van der Meulen. A symbolic versions will generate the formula to compute the pedigree likelihood. (entry from Genetic Analysis Software)

Proper citation: GRONLOD (RRID:SCR_009049) Copy   

•   Source: SciCrunch Registry

http://ki.se/ki/jsp/polopoly.jsp?d=29350&a=31589&l=en

THIS RESOURCE IS NO LONGER IN SERVICE, documented August 29, 2016. The aim of EXT (extinction) is to investigate the relation between specific genetic variations and cognitive control process in fear. Blood samples will be collected from about 300 healthy, young individuals (age 18-35).

Proper citation: KI Biobank - EXT (RRID:SCR_008875) Copy   

•   Source: SciCrunch Registry

http://www.biodata.ee/SNPassistant.htm (30 days trial version)

THIS RESOURCE IS NO LONGER IN SERVCE, documented September 22, 2016. Software application for SNP data managing, import & export from linkage format, data validation, pairwise LD calculation and visualisation, case-control and TDT tests, visual comparison of two datasets, relationships testing. Suitable for large projects.

Proper citation: SNP ASSISTANT (RRID:SCR_009048) Copy   

•   Source: SciCrunch Registry

http://mga.bionet.nsc.ru/soft/index.html

Software application that allows drawing pedigrees with a difficult structure, those containing consanguinity loops, and those individuals with multiple mates or several related families (entry from Genetic Analysis Software)

Proper citation: PEDIGREEQUERY (RRID:SCR_009041) Copy   

•   Source: SciCrunch Registry

http://genapha.icapture.ubc.ca/PathTutorial/

Web application to investigate gene-gene interactions in genetic association studies designed to: 1. Interface your SNP data with biological information from several online bioinformatics databases. 2. Generate biologically plausible hypotheses for testing gene-gene interactions. 3. Select a subset of SNPs and conduct SNP-SNP interaction tests. 4. Store analysis results. 5. Explore analysis results through interactive plots and summary tables. (entry from Genetic Analysis Software), THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: PATH (RRID:SCR_009042) Copy   

•   Source: SciCrunch Registry

http://watson.hgen.pitt.edu/register/soft_doc.html

Software application that is a faster version of SLINK (entry from Genetic Analysis Software)

Proper citation: FASTSLINK (RRID:SCR_008664) Copy   

•   Source: SciCrunch Registry

https://github.com/gaow/genetic-analysis-software/blob/master/pages/GENEPI.JAR.md

A set of Java programs for genetic epidemiology analysis (entry from Genetic Analysis Software)

Proper citation: GENEPI.JAR (RRID:SCR_008782) Copy   

•   Source: SciCrunch Registry

http://www.cs.helsinki.fi/u/prastas/haplovisual/

Software application (entry from Genetic Analysis Software)

Proper citation: HAPLOVISUAL (RRID:SCR_009073) Copy   

•   Source: SciCrunch Registry

http://www.uni-bonn.de/~umt70e/becker.html

Software application for haplotype association analysis of unphased genotype data. It can be used both for population data (case-control) and nuclear family data. The program is optimized for haplotype frequency estimation with the EM-algorithm for many markers. FAMHAP provides a method which searches for potential genotyping errors and several tests for haplotype-based association analysis. Particular emphasis is on Monte-Carlo simulations, which are necessary in the context of haplotype association, where asymptotic theory often fails, and in the context of multiple testing problems. (entry from Genetic Analysis Software)

Proper citation: FAMHAP (RRID:SCR_009070) Copy   

•   Source: SciCrunch Registry

http://www.rni.helsinki.fi/~mjs/

Software application to select a trait-associated subset of markers among many candidates. The program is based on Bayesian modeling/estimation and it suits for both quantitative and qualitative traits. It can handle bi- and multiallelic markers as well as applied in situations where part of the marker genotypes may be missing. As an output of the program, one obtains posterior estimate of number and positions of trait-associated markers. (entry from Genetic Analysis Software), THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: BAMA (RRID:SCR_009071) Copy   

•   Source: SciCrunch Registry

http://bioinformatics.ust.hk/SNPHarvester.html

Software tool for detecting epistatic interactions in genome-wide association studies (entry from Genetic Analysis Software)

Proper citation: SNPHARVESTER (RRID:SCR_008536) Copy   

•   Source: SciCrunch Registry

http://www.simedic.com.ar/bdgen.htm

Powerful database software with improvement tools for paternity testing, database searching (like CODIS) and NRC II recommendations based formulae for investigating likelyhood ratios in putative contributors to crime evidences. Additional genetic population parameters estimations are added in this version. Only spanish version available. (entry from Genetic Analysis Software)

Proper citation: BDGEN (RRID:SCR_008811) Copy   

•   Source: SciCrunch Registry