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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   

•   Source: SciCrunch Registry

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   

•   Source: SciCrunch Registry

http://cran.r-project.org/web/packages/gap/

GAP is designed as an integrated package for genetic data analysis of both population and family data. Currently, it contains functions for sample size calculations of both population-based and family-based designs, classic twin models, probability of familial disease aggregation, kinship calculation, some statistics in linkage analysis, and association analysis involving one or more genetic markers including haplotype analysis with or without environmental covariates.

Proper citation: Genetic Analysis Package (RRID:SCR_003006) Copy   

•   Source: SciCrunch Registry

https://www.nimhgenetics.org/

Collaborative venture between the National Institute of Mental Health (NIMH) and several academic institutions. Repository facilitates psychiatric genetic research by providing patient and control samples and phenotypic data for wide-range of mental disorders and Stem Cells.Stores biosamples, genetic, pedigree and clinical data collected in designated NIMH-funded human subject studies. RGR database likewise links to other repositories holding data from same subjects, including dbGAP, GEO and NDAR. Allows to access these data and biospecimens (e.g., lymphoblastoid cell lines, induced pluripotent cell lines, fibroblasts) and further expand genetic and molecular characterization of patient populations with severe mental illness.

Proper citation: NIMH Repository and Genomics Resources (RRID:SCR_006698) Copy   

•   Source: SciCrunch Registry

http://statgenpro.psychiatry.hku.hk/limx/kggseq/

A biological Knowledge-based mining platform for Genomic and Genetic studies using Sequence data. The software platform, constituted of bioinformatics and statistical genetics functions, makes use of valuable biologic resources and knowledge for sequencing-based genetic mapping of variants / genes responsible for human diseases / traits. It facilitates geneticists to fish for the genetic determinants of human diseases / traits in the big sea of DNA sequences. KGGSeq has paid attention to downstream analysis of genetic mapping. The framework was implemented to filter and prioritize genetic variants from whole exome sequencing data.

Proper citation: KGGSeq (RRID:SCR_005311) Copy   

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http://www.nbiadisorders.org/

The NBIA Disorders Association, formerly known as Hallervorden-Spatz Syndrome Association, (HSSA) was originally founded in 1996 by President, Patricia Wood. The goals of the association are to raise funds to support research pertinent to NBIA; to provide emotional support to those afflicted with NBIA and their families; and to raise public awareness of NBIA. The NBIA Disorders Association is accepting applications for one-year grants for clinical and translational research studies related to the early detection, diagnosis, or treatment of patients with NBIA. Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of rare, genetic, neurological disorders characterized by the accumulation of iron deposits in the brain and progressive degeneration of the nervous system. It typically first appears in childhood. Presenting signs and symptoms may include difficulty walking, loss of balance, and problems related to speech. Those affected suffer a progressive loss of muscle control, sudden involuntary muscle spasms, and uncontrolled tightening of the muscles. Symptoms may also include disorientation, seizures, and deterioration of intellectual ability. Approximately half of the cases diagnosed have been linked to a mutation of a gene known as PANK2. At the present time, symptoms may be treated but there is no cure. The purpose of the NBIA Disorders Association Research Grant Program is to encourage meritorious research studies designed to improve the diagnosis or treatment of NBIA. The research can be conducted in the United States, countries of the European Union, Canada, Australia, New Zealand, Brazil, Argentina, Chile, South Africa, Japan, or Israel, and in other countries where adequate supervision of grant administration is possible. Grants will be awarded to qualified researchers to initiate pilot studies, the results of which are intended to be used to obtain larger multi-year grant funding. Evaluation of proposals will follow NIH guidelines and include careful consideration of experimental or protocol design, objectivity or relevance of parameters measured, and statistical analysis plan. Proposals that address the following areas will be given priority: * Therapeutics Development: ** Development of pantethine and its derivatives ** Development of other rational therapeutics * Animal & Cellular Models: ** Development of a new rodent disease model by targeted insertion of a ''human disease'' mutation into Pank2 ** Development of induced pluripotent stem cell lines. *** Development of animal and cellular models will be considered for multi-year funding with adequate budget justification. Proposals should detail a research plan and a budget for the initial phase of the work, with the option to contract further work out to a commercial enterprise. * Biomarker Discovery and Assay Development: ** Metabolomics ** Coenzyme A / acyl coenzyme A measurement using accessible (peripheral and central) tissue/fluid * New NBIA gene discovery

Proper citation: NBIA Disorders Association (RRID:SCR_005382) Copy   

•   Source: SciCrunch Registry

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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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   

•   Source: SciCrunch Registry

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   

•   Source: SciCrunch Registry

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   

•   Source: SciCrunch Registry

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   

•   Source: SciCrunch Registry

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   

•   Source: SciCrunch Registry

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   

•   Source: SciCrunch Registry

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   

•   Source: SciCrunch Registry

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

Software application that provides flexible simulations of family data within an easy-to-use, high-level programming language. GENETSIM has no limit on pedigree sizes or structures, or number of families, or number of marker, or number of chromosomes. Genetic transmission is modeled by first generating the locations of recombination events, and then performing gene dropping according to the given recombination pattern. Any pattern of missing data can be specified and genotyping errors can be simulated. GENETSIM can simulat multiple QTLs with pleiotropic effects, multivariate polygenic background and any number of environmental factors, age effects, epistasis and variable expression. Users can also select families based on ascertainment schemes by repeating simulations. (entry from Genetic Analysis Software)

Proper citation: GENETSIM (RRID:SCR_009199) Copy   

•   Source: SciCrunch Registry

http://vorlon.case.edu/~jxl175/HapMiner.html

Software application for association mapping based on directly mining the haplotypes from case-control data via a density-based clustering algorithm. HapMiner can be applied to whole-genome screens, as well as candidate-gene studies in small genomic regions. (entry from Genetic Analysis Software)

Proper citation: HAPMINER (RRID:SCR_009233) Copy   

•   Source: SciCrunch Registry

http://www.bioinf.mdc-berlin.de/projects/hap/

Haplotype estimation service available in two variants: one for genetic data from unrelated probands (e.g., case/control studies) and one for core family data (entry from Genetic Analysis Software)

Proper citation: HAPLOTYPE ESTIMATION (RRID:SCR_009231) Copy   

•   Source: SciCrunch Registry

http://galton.uchicago.edu/genehunterplus

Software application that is a modification of the GENEHUNTER software package which produces output files containing the null and conditional distributions of the test statistic (in nullprobs.dat and probs.dat, respectively). These files can then be used as input to the ASM program which incorporates the allele sharing modeling for lodscores and likelihood ratio tests as developed by Kong and Cox (1997). (entry from Genetic Analysis Software)

Proper citation: GENEHUNTER-PLUS (RRID:SCR_009193) Copy   

•   Source: SciCrunch Registry

http://www.biostat.jhsph.edu/~wmchen/gf.html

THIS RESOURCE IS NO LONGER IN SERVCE, documented September 21, 2016. Software application that uses GEE method to estimate the location of the susceptibility gene based on the allele-sharing of affected sib pairs for multiple markers. GENEFINDER can further the analysis of GENEHUNTER by providing a more accurate gene location estimation and the corresponding confidence interval.

Proper citation: GENEFINDER (RRID:SCR_009190) Copy   

•   Source: SciCrunch Registry