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  1. Article: Genetics of cognitive performance, education and learning: from research to policy?

    Visscher, Peter M

    NPJ science of learning

    2022  Volume 7, Issue 1, Page(s) 8

    Language English
    Publishing date 2022-05-04
    Publishing country England
    Document type Journal Article
    ISSN 2056-7936
    ISSN 2056-7936
    DOI 10.1038/s41539-022-00124-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Musings on Visscher et al. (2006).

    Visscher, Peter M

    Twin research and human genetics : the official journal of the International Society for Twin Studies

    2020  Volume 23, Issue 2, Page(s) 107–108

    Abstract: The classical twin design relies on a number of strong number of assumptions in order to yield unbiased estimates of heritability. This includes the equal environments assumption - that monozygotic and dizygotic twins experience similar degrees of ... ...

    Abstract The classical twin design relies on a number of strong number of assumptions in order to yield unbiased estimates of heritability. This includes the equal environments assumption - that monozygotic and dizygotic twins experience similar degrees of environmental similarity - an assumption that is likely to be violated in practice for many traits of interest. An alternative method of estimating heritability that does not suffer from many of these limitations is to model trait similarity between sibling pairs as a function of their empirical genome-wide identity by descent sharing, estimated from genetic markers. In this review, I recount the story behind Nick Martin's and my development of this method, our first attempts at applying it in a human population and more recent studies using the original and related methods to estimate trait heritability.
    MeSH term(s) Genetic Markers/genetics ; History, 20th Century ; History, 21st Century ; Humans ; Twin Studies as Topic/history ; Twins/genetics ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics
    Chemical Substances Genetic Markers
    Language English
    Publishing date 2020-05-19
    Publishing country England
    Document type Biography ; Historical Article ; Journal Article ; Review
    ZDB-ID 2182682-1
    ISSN 1839-2628 ; 1832-4274
    ISSN (online) 1839-2628
    ISSN 1832-4274
    DOI 10.1017/thg.2020.21
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The effect of the scale of grant scoring on ranking accuracy.

    Visscher, Peter M / Yengo, Loic

    F1000Research

    2022  Volume 11, Page(s) 1197

    Abstract: In this study we quantify the accuracy of scoring the quality of research grants using a finite set of distinct categories (1, 2, …., k), when the unobserved grant score is a continuous random variable comprising a true quality score and measurement ... ...

    Abstract In this study we quantify the accuracy of scoring the quality of research grants using a finite set of distinct categories (1, 2, …., k), when the unobserved grant score is a continuous random variable comprising a true quality score and measurement error, both normally distributed. We vary the number of categories, the number of assessors that score the same grant and a signal-to-noise ratio parameter. We show that the loss of information of scoring a small number of categories (k > 5) compared to scoring on a continuous scale is very small, so that increasing the number of scoring categories is unlikely to lead to an improvement in the outcomes of scoring systems. In addition, we model the effect of grant assessors scoring too close to the mean and show that this results in only a very small reduction in the accuracy of scoring.
    MeSH term(s) Financing, Organized
    Language English
    Publishing date 2022-10-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2699932-8
    ISSN 2046-1402 ; 2046-1402
    ISSN (online) 2046-1402
    ISSN 2046-1402
    DOI 10.12688/f1000research.125400.2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Challenges in understanding common disease.

    Visscher, Peter M

    Genome medicine

    2017  Volume 9, Issue 1, Page(s) 112

    Abstract: Peter M. Visscher discusses advances in our understanding of complex disease, the challenges in applying this knowledge to functional follow-up, and the potential implications for therapeutic interventions. ...

    Abstract Peter M. Visscher discusses advances in our understanding of complex disease, the challenges in applying this knowledge to functional follow-up, and the potential implications for therapeutic interventions.
    MeSH term(s) Genetic Predisposition to Disease ; Genetics, Medical/methods ; Genome, Human ; Genome-Wide Association Study/methods ; Humans ; Multifactorial Inheritance
    Language English
    Publishing date 2017--18
    Publishing country England
    Document type Interview ; Research Support, Non-U.S. Gov't
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-017-0506-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: 15 years of GWAS discovery: Realizing the promise.

    Abdellaoui, Abdel / Yengo, Loic / Verweij, Karin J H / Visscher, Peter M

    American journal of human genetics

    2023  Volume 110, Issue 2, Page(s) 179–194

    Abstract: It has been 15 years since the advent of the genome-wide association study (GWAS) era. Here, we review how this experimental design has realized its promise by facilitating an impressive range of discoveries with remarkable impact on multiple fields, ... ...

    Abstract It has been 15 years since the advent of the genome-wide association study (GWAS) era. Here, we review how this experimental design has realized its promise by facilitating an impressive range of discoveries with remarkable impact on multiple fields, including population genetics, complex trait genetics, epidemiology, social science, and medicine. We predict that the emergence of large-scale biobanks will continue to expand to more diverse populations and capture more of the allele frequency spectrum through whole-genome sequencing, which will further improve our ability to investigate the causes and consequences of human genetic variation for complex traits and diseases.
    MeSH term(s) Humans ; Genome-Wide Association Study ; Gene Frequency ; Genetics, Population ; Multifactorial Inheritance ; Polymorphism, Single Nucleotide
    Language English
    Publishing date 2023-01-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2022.12.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Human Complex Trait Genetics in the 21st Century.

    Visscher, Peter M

    Genetics

    2016  Volume 202, Issue 2, Page(s) 377–379

    MeSH term(s) Animals ; Delivery of Health Care ; Genetics, Medical/history ; Genetics, Medical/trends ; Genetics, Population/history ; Genetics, Population/trends ; Genomics/history ; Genomics/trends ; History, 21st Century ; Humans ; Precision Medicine ; Quantitative Trait, Heritable
    Language English
    Publishing date 2016-02
    Publishing country United States
    Document type Historical Article ; Letter
    ZDB-ID 2167-2
    ISSN 1943-2631 ; 0016-6731
    ISSN (online) 1943-2631
    ISSN 0016-6731
    DOI 10.1534/genetics.115.180513
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Joint analysis of GWAS and multi-omics QTL summary statistics reveals a large fraction of GWAS signals shared with molecular phenotypes.

    Wu, Yang / Qi, Ting / Wray, Naomi R / Visscher, Peter M / Zeng, Jian / Yang, Jian

    Cell genomics

    2023  Volume 3, Issue 8, Page(s) 100344

    Abstract: Molecular quantitative trait loci (xQTLs) are often harnessed to prioritize genes or functional elements underpinning variant-trait associations identified from genome-wide association studies (GWASs). Here, we introduce OPERA, a method that jointly ... ...

    Abstract Molecular quantitative trait loci (xQTLs) are often harnessed to prioritize genes or functional elements underpinning variant-trait associations identified from genome-wide association studies (GWASs). Here, we introduce OPERA, a method that jointly analyzes GWAS and multi-omics xQTL summary statistics to enhance the identification of molecular phenotypes associated with complex traits through shared causal variants. Applying OPERA to summary-level GWAS data for 50 complex traits (n = 20,833-766,345) and xQTL data from seven omics layers (n = 100-31,684) reveals that 50% of the GWAS signals are shared with at least one molecular phenotype. GWAS signals shared with multiple molecular phenotypes, such as those at the
    Language English
    Publishing date 2023-06-19
    Publishing country United States
    Document type Journal Article
    ISSN 2666-979X
    ISSN (online) 2666-979X
    DOI 10.1016/j.xgen.2023.100344
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: From R.A. Fisher's 1918 Paper to GWAS a Century Later.

    Visscher, Peter M / Goddard, Michael E

    Genetics

    2019  Volume 211, Issue 4, Page(s) 1125–1130

    Abstract: The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is ... ...

    Abstract The genetics and evolution of complex traits, including quantitative traits and disease, have been hotly debated ever since Darwin. A century ago, a paper from R.A. Fisher reconciled Mendelian and biometrical genetics in a landmark contribution that is now accepted as the main foundation stone of the field of quantitative genetics. Here, we give our perspective on Fisher's 1918 paper in the context of how and why it is relevant in today's genome era. We mostly focus on human trait variation, in part because Fisher did so too, but the conclusions are general and extend to other natural populations, and to populations undergoing artificial selection.
    MeSH term(s) Animals ; Genetics/history ; Genome-Wide Association Study/history ; Genome-Wide Association Study/methods ; History, 20th Century ; History, 21st Century ; Humans
    Language English
    Publishing date 2019-04-09
    Publishing country United States
    Document type Historical Article ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2167-2
    ISSN 1943-2631 ; 0016-6731
    ISSN (online) 1943-2631
    ISSN 0016-6731
    DOI 10.1534/genetics.118.301594
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Gene action, genetic variation, and GWAS: A user-friendly web tool.

    Hivert, Valentin / Wray, Naomi R / Visscher, Peter M

    PLoS genetics

    2021  Volume 17, Issue 5, Page(s) e1009548

    Abstract: Fisher's partitioning of genotypic values and genetic variance is highly relevant in the current era of genome-wide association studies (GWASs). However, despite being more than a century old, a number of persistent misconceptions related to nonadditive ... ...

    Abstract Fisher's partitioning of genotypic values and genetic variance is highly relevant in the current era of genome-wide association studies (GWASs). However, despite being more than a century old, a number of persistent misconceptions related to nonadditive genetic effects remain. We developed a user-friendly web tool, the Falconer ShinyApp, to show how the combination of gene action and allele frequencies at causal loci translate to genetic variance and genetic variance components for a complex trait. The app can be used to demonstrate the relationship between a SNP effect size estimated from GWAS and the variation the SNP generates in the population, i.e., how locus-specific effects lead to individual differences in traits. In addition, it can also be used to demonstrate how within and between locus interactions (dominance and epistasis, respectively) usually do not lead to a large amount of nonadditive variance relative to additive variance, and therefore, that these interactions usually do not explain individual differences in a population.
    MeSH term(s) Epistasis, Genetic ; Gene Frequency ; Genes/genetics ; Genes, Dominant ; Genetic Loci/genetics ; Genetic Variation ; Genome-Wide Association Study ; Genotype ; Humans ; Internet ; Models, Genetic ; Polymorphism, Single Nucleotide ; Software
    Language English
    Publishing date 2021-05-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2186725-2
    ISSN 1553-7404 ; 1553-7390
    ISSN (online) 1553-7404
    ISSN 1553-7390
    DOI 10.1371/journal.pgen.1009548
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Unravelling the complex causal effects of substance use behaviours on common diseases.

    Xue, Angli / Zhu, Zhihong / Wang, Huanwei / Jiang, Longda / Visscher, Peter M / Zeng, Jian / Yang, Jian

    Communications medicine

    2024  Volume 4, Issue 1, Page(s) 43

    Abstract: Background: Substance use behaviours (SUB) including smoking, alcohol consumption, and coffee intake are associated with many health outcomes. However, whether the health effects of SUB are causal remains controversial, especially for alcohol ... ...

    Abstract Background: Substance use behaviours (SUB) including smoking, alcohol consumption, and coffee intake are associated with many health outcomes. However, whether the health effects of SUB are causal remains controversial, especially for alcohol consumption and coffee intake.
    Methods: In this study, we assess 11 commonly used Mendelian Randomization (MR) methods by simulation and apply them to investigate the causal relationship between 7 SUB traits and health outcomes. We also combine stratified regression, genetic correlation, and MR analyses to investigate the dosage-dependent effects.
    Results: We show that smoking initiation has widespread risk effects on common diseases such as asthma, type 2 diabetes, and peripheral vascular disease. Alcohol consumption shows risk effects specifically on cardiovascular diseases, dyslipidemia, and hypertensive diseases. We find evidence of dosage-dependent effects of coffee and tea intake on common diseases (e.g., cardiovascular disease and osteoarthritis). We observe that the minor allele effect of rs4410790 (the top signal for tea intake level) is negative on heavy tea intake
    Conclusion: Our study reveals the complexity of the health effects of SUB and informs design for future studies aiming to dissect the causal relationships between behavioural traits and complex diseases.
    Language English
    Publishing date 2024-03-12
    Publishing country England
    Document type Journal Article
    ISSN 2730-664X
    ISSN (online) 2730-664X
    DOI 10.1038/s43856-024-00473-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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