Fast simulation of identity-by-descent segments

The worst-case runtime complexity to simulate haplotype segments identical by descent (IBD) is quadratic in sample size. We propose two main techniques to reduce the compute time, both of which are motivated by coalescent and recombination processes. We provide mathematical results that explain why our algorithm should outperform a naive implementation with high probability. In our experiments, we observe average compute times to simulate detectable IBD segments around a locus that scale approximately linearly in sample size and take a couple of seconds for sample sizes that are less than 10,000 diploid individuals. In contrast, we find that existing methods to simulate IBD segments take minutes to hours for sample sizes exceeding a few thousand diploid individuals. When using IBD segments to study recent positive selection around a locus, our efficient simulation algorithm makes feasible statistical inferences, e.g., parametric bootstrapping in analyses of large biobanks, that would be otherwise intractable.

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Publication Details

Journal
Bulletin of Mathematical Biology
Published
2025-05-23
DOI
https://doi.org/10.1007/s11538-025-01464-8
Citations
3
Primary Topic
Gene expression and cancer classification
Type
article
Field-Weighted Citation Impact
2.42

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article

Fast simulation of identity-by-descent segments

Sharon R. Browning, E. A. Thompson, Seth D Temple
3 citations
Bulletin of Mathematical Biology
Gene expression and cancer classification
2.42
article

Fast simulation of identity-by-descent segments

Sharon R. Browning, E. A. Thompson, Seth D Temple
article en
3 citations

Abstract

The worst-case runtime complexity to simulate haplotype segments identical by descent (IBD) is quadratic in sample size. We propose two main techniques to reduce the compute time, both of which are motivated by coalescent and recombination processes. We provide mathematical results that explain why our algorithm should outperform a naive implementation with high probability. In our experiments, we observe average compute times to simulate detectable IBD segments around a locus that scale approximately linearly in sample size and take a couple of seconds for sample sizes that are less than 10,000 diploid individuals. In contrast, we find that existing methods to simulate IBD segments take minutes to hours for sample sizes exceeding a few thousand diploid individuals. When using IBD segments to study recent positive selection around a locus, our efficient simulation algorithm makes feasible statistical inferences, e.g., parametric bootstrapping in analyses of large biobanks, that would be otherwise intractable.

Bulletin of Mathematical BiologyVol. 87(7)
University of Washington (US), University of Michigan (US), Michigan Medicine (US)
U.S. Department of Defense, National Institutes of Health, National Defense Science and Engineering Graduate, National Human Genome Research Institute
Openalex Percentile: Top 12%
Gene expression and cancer classification
2.42
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