LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 8 of total 8

Search options

  1. Book ; Online: Assessing statistical significance in genome wide association studies

    Buzdugan, Laura

    2016  

    Abstract: Dissertation, ETH Zürich, 2016, No. ... ...

    Abstract Dissertation, ETH Zürich, 2016, No. 23868
    Keywords VARIATION + VARIABILITÄT (GENETIK) ; GENETISCHE DIAGNOSTIK ; DIAGNOSTIK VON ERBKRANKHEITEN (MEDIZIN) ; MULTIVARIATE METHODEN (MATHEMATISCHE STATISTIK) ; STATISTIK DER PHYSISCHEN BESCHAFFENHEIT DER BEVÖLKERUNG + MEDIZINISCHE STATISTIK
    Language English
    Publisher Zürich
    Publishing country ch
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    More links

    Kategorien

  2. Thesis ; Online: Assessing statistical significance in genome wide association studies

    Buzdugan, Laura

    2016  

    Keywords GENETISCHE DIAGNOSTIK ; DIAGNOSTIK VON ERBKRANKHEITEN (MEDIZIN) ; VARIATION + VARIABILITÄT (GENETIK) ; MULTIVARIATE METHODS (MATHEMATICAL STATISTICS) ; STATISTIK DER PHYSISCHEN BESCHAFFENHEIT DER BEVÖLKERUNG + MEDIZINISCHE STATISTIK ; GENETIC DIAGNOSTICS ; DIAGNOSTICS OF HEREDITARY DISEASES (MEDICINE) ; STATISTICS OF THE PHYSICAL CONDITION OF THE POPULATION + MEDICAL STATISTICS ; VARIATION + VARIABILITY (GENETICS) ; MULTIVARIATE METHODEN (MATHEMATISCHE STATISTIK) ; info:eu-repo/classification/ddc/510 ; Mathematics
    Language English
    Publisher ETH Zürich
    Publishing country ch
    Document type Thesis ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    More links

    Kategorien

  3. Book ; Online ; Thesis: High-dimensional statistical inference

    Buzdugan, Laura

    2012  

    Author's details Laura Buzdugan
    Language English
    Size Online-Ressource
    Publisher Swiss Federal Institute of Technology Zurich, Department of Mathematics
    Publishing place Zürich
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Master Thesis ETH Zurich--Zürich, 2012
    Database Former special subject collection: coastal and deep sea fishing

    More links

    Kategorien

  4. Book ; Online ; Thesis: High-dimensional statistical inference

    Buzdugan, Laura

    2012  

    Author's details Laura Buzdugan
    Language English
    Size Online-Ressource
    Publisher Swiss Federal Institute of Technology Zurich, Department of Mathematics
    Publishing place Zürich
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Master Thesis ETH Zurich--Zürich, 2012
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

    More links

    Kategorien

  5. Article: Hot, horny and healthy-online intervention to incentivize HIV and sexually transmitted infections (STI) testing among young Mexican MSM: a feasibility study.

    Andrade-Romo, Zafiro / Chavira-Razo, Laura / Buzdugan, Raluca / Bertozzi, Elena / Bautista-Arredondo, Sergio

    mHealth

    2020  Volume 6, Page(s) 28

    Abstract: Background: Encouraging Mexican men who have sex with men (MSM) to learn about and get tested for human immunodeficiency virus (HIV) is essential not only to initiate early treatment and reduce complications related to acquired immune deficiency ... ...

    Abstract Background: Encouraging Mexican men who have sex with men (MSM) to learn about and get tested for human immunodeficiency virus (HIV) is essential not only to initiate early treatment and reduce complications related to acquired immune deficiency syndrome (AIDS) but also to avoid new infections. HIV testing for MSM in Mexico remains a challenge, in part because of the stigma and discrimination they face in their daily lives and perceived discrimination in health care services. Thus, innovative approaches are needed to increase the uptake of health prevention services among this population. Games for health and gamification are now established approaches to achieving desired behavior change. Gamified interventions have been successfully deployed in various health domains, including HIV awareness, treatment, and prevention. The aim of this 2015 study was to develop a phone-based game and linked online platform with gamification elements to incentivize HIV and sexually transmitted infections (STI) testing, normalize asking partners about serostatus, and increase HIV and STI knowledge among young Mexican MSM. This paper describes its implementation process and feasibility assessment.
    Methods: The study consisted of three phases. The first phase was the formative research, which consisted of 6 focus groups and rapid prototyping to determine the most effective and appropriate design for the intervention. The second phase consisted of piloting and implementing the intervention over five weeks among 62 MSM, aged between 18 and 35 years old. Lastly, we assessed the feasibility of the intervention over three dimensions: acceptability, demand, and implementation. We conducted ten semi-structured interviews with participants and used a mixed-methods approach, including qualitative and quantitative evaluation methods.
    Results: Overall, the conceptual components of the intervention were perceived as acceptable, which leads us to believe that the formative phase captured our participants' needs and perceptions. However, we underestimated the complexity of the technical challenges involved. Participants' high standards and expectations of an interactive product based on their experience with industrially produced games impacted their patterns of use. Nevertheless, they perceived the platform as a good-quality information source. Gamification elements such as badges, points, and prizes were perceived as fun, exciting, and motivating, and 71% of participants engaged in at least one activity to earn points.
    Conclusions: A game-based intervention, coupled with an online platform that incorporates gamification elements to motivate HIV and STI testing in young Mexican MSM is feasible. Successfully scaling such an intervention to a broader audience would require reducing the complexity of the intervention, working with a local technical partner to develop and implement a more efficient platform, improving the quality of the graphics, and a re-design of the point system.
    Language English
    Publishing date 2020-07-05
    Publishing country China
    Document type Journal Article
    ISSN 2306-9740
    ISSN 2306-9740
    DOI 10.21037/mhealth.2020.03.01
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article: Assessing statistical significance in multivariable genome wide association analysis

    Buzdugan, Laura / Kalisch, Markus / Navarro, Arcadi / Schunk, Daniel / Fehr, Ernst / Bühlmann, Peter

    Bioinformatics. 2016 July 01, v. 32, no. 13

    2016  

    Abstract: Motivation: Although Genome Wide Association Studies (GWAS) genotype a very large number of single nucleotide polymorphisms (SNPs), the data are often analyzed one SNP at a time. The low predictive power of single SNPs, coupled with the high significance ...

    Abstract Motivation: Although Genome Wide Association Studies (GWAS) genotype a very large number of single nucleotide polymorphisms (SNPs), the data are often analyzed one SNP at a time. The low predictive power of single SNPs, coupled with the high significance threshold needed to correct for multiple testing, greatly decreases the power of GWAS. Results: We propose a procedure in which all the SNPs are analyzed in a multiple generalized linear model, and we show its use for extremely high-dimensional datasets. Our method yields P-values for assessing significance of single SNPs or groups of SNPs while controlling for all other SNPs and the family wise error rate (FWER). Thus, our method tests whether or not a SNP carries any additional information about the phenotype beyond that available by all the other SNPs. This rules out spurious correlations between phenotypes and SNPs that can arise from marginal methods because the ‘spuriously correlated’ SNP merely happens to be correlated with the ‘truly causal’ SNP. In addition, the method offers a data driven approach to identifying and refining groups of SNPs that jointly contain informative signals about the phenotype. We demonstrate the value of our method by applying it to the seven diseases analyzed by the Wellcome Trust Case Control Consortium (WTCCC). We show, in particular, that our method is also capable of finding significant SNPs that were not identified in the original WTCCC study, but were replicated in other independent studies. Availability and implementation: Reproducibility of our research is supported by the open-source Bioconductor package hierGWAS. Contact: peter.buehlmann@stat.math.ethz.ch Supplementary information: Supplementary data are available at Bioinformatics online.
    Keywords bioinformatics ; data collection ; genome-wide association study ; genotype ; linear models ; phenotype ; single nucleotide polymorphism
    Language English
    Dates of publication 2016-0701
    Size p. 1990-2000.
    Publishing place Oxford University Press
    Document type Article
    ZDB-ID 1468345-3
    ISSN 1460-2059 ; 1367-4811 ; 1367-4803
    ISSN (online) 1460-2059 ; 1367-4811
    ISSN 1367-4803
    DOI 10.1093/bioinformatics/btw128
    Database NAL-Catalogue (AGRICOLA)

    More links

    Kategorien

  7. Article ; Online: Assessing statistical significance in multivariable genome wide association analysis.

    Buzdugan, Laura / Kalisch, Markus / Navarro, Arcadi / Schunk, Daniel / Fehr, Ernst / Bühlmann, Peter

    Bioinformatics (Oxford, England)

    2016  Volume 32, Issue 13, Page(s) 1990–2000

    Abstract: Motivation: Although Genome Wide Association Studies (GWAS) genotype a very large number of single nucleotide polymorphisms (SNPs), the data are often analyzed one SNP at a time. The low predictive power of single SNPs, coupled with the high ... ...

    Abstract Motivation: Although Genome Wide Association Studies (GWAS) genotype a very large number of single nucleotide polymorphisms (SNPs), the data are often analyzed one SNP at a time. The low predictive power of single SNPs, coupled with the high significance threshold needed to correct for multiple testing, greatly decreases the power of GWAS.
    Results: We propose a procedure in which all the SNPs are analyzed in a multiple generalized linear model, and we show its use for extremely high-dimensional datasets. Our method yields P-values for assessing significance of single SNPs or groups of SNPs while controlling for all other SNPs and the family wise error rate (FWER). Thus, our method tests whether or not a SNP carries any additional information about the phenotype beyond that available by all the other SNPs. This rules out spurious correlations between phenotypes and SNPs that can arise from marginal methods because the 'spuriously correlated' SNP merely happens to be correlated with the 'truly causal' SNP. In addition, the method offers a data driven approach to identifying and refining groups of SNPs that jointly contain informative signals about the phenotype. We demonstrate the value of our method by applying it to the seven diseases analyzed by the Wellcome Trust Case Control Consortium (WTCCC). We show, in particular, that our method is also capable of finding significant SNPs that were not identified in the original WTCCC study, but were replicated in other independent studies.
    Availability and implementation: Reproducibility of our research is supported by the open-source Bioconductor package hierGWAS.
    Contact: peter.buehlmann@stat.math.ethz.ch
    Supplementary information: Supplementary data are available at Bioinformatics online.
    MeSH term(s) Cluster Analysis ; Computational Biology/methods ; Computer Simulation ; Genome-Wide Association Study ; Genotype ; Humans ; Linear Models ; Phenotype ; Polymorphism, Single Nucleotide ; Reproducibility of Results
    Language English
    Publishing date 2016-03-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 1422668-6
    ISSN 1367-4811 ; 1367-4803
    ISSN (online) 1367-4811
    ISSN 1367-4803
    DOI 10.1093/bioinformatics/btw128
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

    Karlsson Linnér, Richard / Biroli, Pietro / Kong, Edward / Meddens, S Fleur W / Wedow, Robbee / Fontana, Mark Alan / Lebreton, Maël / Tino, Stephen P / Abdellaoui, Abdel / Hammerschlag, Anke R / Nivard, Michel G / Okbay, Aysu / Rietveld, Cornelius A / Timshel, Pascal N / Trzaskowski, Maciej / Vlaming, Ronald de / Zünd, Christian L / Bao, Yanchun / Buzdugan, Laura /
    Caplin, Ann H / Chen, Chia-Yen / Eibich, Peter / Fontanillas, Pierre / Gonzalez, Juan R / Joshi, Peter K / Karhunen, Ville / Kleinman, Aaron / Levin, Remy Z / Lill, Christina M / Meddens, Gerardus A / Muntané, Gerard / Sanchez-Roige, Sandra / Rooij, Frank J van / Taskesen, Erdogan / Wu, Yang / Zhang, Futao / Auton, Adam / Boardman, Jason D / Clark, David W / Conlin, Andrew / Dolan, Conor C / Fischbacher, Urs / Groenen, Patrick J F / Harris, Kathleen Mullan / Hasler, Gregor / Hofman, Albert / Ikram, Mohammad A / Jain, Sonia / Karlsson, Robert / Kessler, Ronald C / Kooyman, Maarten / MacKillop, James / Männikkö, Minna / Morcillo-Suarez, Carlos / McQueen, Matthew B / Schmidt, Klaus M / Smart, Melissa C / Sutter, Matthias / Thurik, A Roy / Uitterlinden, André G / White, Jon / Wit, Harriet de / Yang, Jian / Bertram, Lars / Boomsma, Dorret I / Esko, Tõnu / Fehr, Ernst / Hinds, David A / Johannesson, Magnus / Kumari, Meena / Laibson, David / Magnusson, Patrik K E / Meyer, Michelle N / Navarro, Arcadi / Palmer, Abraham A / Pers, Tune H / Posthuma, Danielle / Schunk, Daniel / Stein, Murray B / Svento, Rauli / Tiemeier, Henning / Timmers, Paul R H J / Turley, Patrick / Ursano, Robert J / Wagner, Gert G / Wilson, James F / Gratten, Jacob / Lee, James J / Cesarini, David / Benjamin, Daniel J / Koellinger, Philipp D / Beauchamp, Jonathan P

    Nature genetics

    2019  Volume 51, Issue 2, Page(s) 245–257

    Abstract: Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, ...

    Abstract Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated ([Formula: see text] ~ 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance.
    MeSH term(s) Behavior/physiology ; Case-Control Studies ; Female ; Genetic Loci/genetics ; Genetic Predisposition to Disease/genetics ; Genetics, Behavioral/methods ; Genome-Wide Association Study/methods ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide/genetics
    Language English
    Publishing date 2019-01-14
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-018-0309-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

To top