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Review
. 2021 Mar;45(2):131-141.
doi: 10.1002/gepi.22362. Epub 2020 Oct 16.

On the application, reporting, and sharing of in silico simulations for genetic studies

Affiliations
Review

On the application, reporting, and sharing of in silico simulations for genetic studies

Kaleigh Riggs et al. Genet Epidemiol. 2021 Mar.

Abstract

In silico simulations play an indispensable role in the development and application of statistical models and methods for genetic studies. Simulation tools allow for the evaluation of methods and investigation of models in a controlled manner. With the growing popularity of evolutionary models and simulation-based statistical methods, genetic simulations have been applied to a wide variety of research disciplines such as population genetics, evolutionary genetics, genetic epidemiology, ecology, and conservation biology. In this review, we surveyed 1409 articles from five journals that publish on major application areas of genetic simulations. We identified 432 papers in which genetic simulations were used and examined the targets and applications of simulation studies and how these simulation methods and simulated data sets are reported and shared. Whereas a large proportion (30%) of the surveyed articles reported the use of genetic simulations, only 28% of these genetic simulation studies used existing simulation software, 2% used existing simulated data sets, and 19% and 12% made source code and simulated data sets publicly available, respectively. Moreover, 15% of articles provided no information on how simulation studies were performed. These findings suggest a need to encourage sharing and reuse of existing simulation software and data sets, as well as providing more information regarding the performance of simulations.

Keywords: Genetic simulations; data sets; reproducibility.

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Conflict of interest statement

The authors declare that there are no conflict of interests.

References

    1. Auton, A. , Abecasis, G. R. , Altshuler, D. M. , Durbin, R. M. , Abecasis, G. R. , Bentley, D. R. , Chakravarti, A. , Clark, A. G. , Donnelly, P. , Eichler, E. E. , Flicek, P. , Gabriel, S. B. , Gibbs, R. A. , Green, E. D. , Hurles, M. E. , Knoppers, B. M. , Korbel, J. O. , Lander, E. S. , Lee, C. , … Abecasis, G. R. , The 1000 Genomes Project Consortium . (2015). A global reference for human genetic variation. Nature, 526(7571), 68–74. - PMC - PubMed
    1. Blangero, J. , Teslovich, T. M. , Sim, X. , Almeida, M. A. , Jun, G. , Dyer, T. D. , Johnson, M. , Peralta, J. M. , Manning, A. , Wood, A. R. , Fuchsberger, C. , Kent, J. W. , Aguilar, D. A. , Below, J. E. , Farook, V. S. , Arya, R. , Fowler, S. , Blackwell, T. W. , Puppala, S. , … Almasy, L. (2016). Omics‐squared: Human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19. BMC Proceedings, 10(Suppl 7), 71–77. - PMC - PubMed
    1. Caetano, D. S. , O'Meara, B. C. , & Beaulieu, J. M. (2018). Hidden state models improve state‐dependent diversification approaches, including biogeographical models. Evolution, 72(11), 2308–2324. - PubMed
    1. Cao, C. , Mak, L. , Jin, G. , Gordon, P. , Ye, K. , & Long, Q. (2019). PRESM: Personalized reference editor for somatic mutation discovery in cancer genomics. Bioinformatics, 35(9), 1445–1452. - PubMed
    1. Chen, H. S. , Hutter, C. M. , Mechanic, L. E. , Amos, C. I. , Bafna, V. , Hauser, E. R. , Hernandez, R. D. , Li, C. , Liberles, D. A. , McAllister, K. , Moore, J. H. , Paltoo, D. N. , Papanicolaou, G. J. , Peng, B. , Ritchie, M. D. , Rosenfeld, G. , Witte, J. S. , Gillanders, E. M. , & Feuer, E. J. (2015). Genetic simulation tools for post‐genome wide association studies of complex diseases. Genetic Epidemiology, 39(1), 11–19. - PMC - PubMed

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