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Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations.

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Peer-reviewed

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Change log

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Abstract

Simulation is a key tool in population genetics for both methods development and empirical research, but producing simulations that recapitulate the main features of genomic datasets remains a major obstacle. Today, more realistic simulations are possible thanks to large increases in the quantity and quality of available genetic data, and the sophistication of inference and simulation software. However, implementing these simulations still requires substantial time and specialized knowledge. These challenges are especially pronounced for simulating genomes for species that are not well-studied, since it is not always clear what information is required to produce simulations with a level of realism sufficient to confidently answer a given question. The community-developed framework stdpopsim seeks to lower this barrier by facilitating the simulation of complex population genetic models using up-to-date information. The initial version of stdpopsim focused on establishing this framework using six well-characterized model species (Adrion et al., 2020). Here, we report on major improvements made in the new release of stdpopsim (version 0.2), which includes a significant expansion of the species catalog and substantial additions to simulation capabilities. Features added to improve the realism of the simulated genomes include non-crossover recombination and provision of species-specific genomic annotations. Through community-driven efforts, we expanded the number of species in the catalog more than threefold and broadened coverage across the tree of life. During the process of expanding the catalog, we have identified common sticking points and developed the best practices for setting up genome-scale simulations. We describe the input data required for generating a realistic simulation, suggest good practices for obtaining the relevant information from the literature, and discuss common pitfalls and major considerations. These improvements to stdpopsim aim to further promote the use of realistic whole-genome population genetic simulations, especially in non-model organisms, making them available, transparent, and accessible to everyone.

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Peer reviewed: True


Acknowledgements: We wish to thank the dozens of workshop attendees, and especially the two dozen or so hackathon participants, whose combined feedback motivated many of the updates made to stdpopsim in the past two years.


Funder: Robertson Foundation; FundRef: http://dx.doi.org/10.13039/100013961

Journal Title

Elife

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Journal ISSN

2050-084X
2050-084X

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Publisher

eLife Sciences Publications, Ltd

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Except where otherwised noted, this item's license is described as http://creativecommons.org/licenses/by/4.0/
Sponsorship
National Science Foundation (Postdoctoral Research Fellowship 2010884)
National Institute of General Medical Sciences (R35GM119856)
Dim One Health (RPH17094JJP)
Human Frontier Science Program (RGY0075/2019)
Brown University (Predoctoral Training Program in Biological Data Science (NIH T32 GM128596))
Science for Life Laboratory (Knut and Alice Wallenberg Foundation)
Deutsche Forschungsgemeinschaft (EXC 2064/1 - Project number 390727645)
Deutsche Forschungsgemeinschaft (EXC 2124 - Project number 390838134)
National Science Foundation (DBI-1929850)
University of Edinburgh (BBS/E/D/30002275)
National Institute of General Medical Sciences (R01GM127348)
National Institute of General Medical Sciences (R01HG010774)
National Institute of General Medical Sciences (R35GM138286)