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Efficient coalescent simulation and genealogical analysis for large sample sizes

View ORCID ProfileJerome Kelleher, View ORCID ProfileAlison M. Etheridge, View ORCID ProfileGil McVean
doi: https://doi.org/10.1101/033118
Jerome Kelleher
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Alison M. Etheridge
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Gil McVean
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Abstract

A central challenge in the analysis of genetic variation is to provide realistic genome simulation across millions of samples. Present day coalescent simulations do not scale well, or use approximations that fail to capture important long-range linkage properties. Analysing the results of simulations also presents a substantial challenge, as current methods to store genealogies consume a great deal of space, are slow to parse and do not take advantage of shared structure in correlated trees. We solve these problems by introducing sparse trees and coalescence records as the key units of genealogical analysis. Using these tools, exact simulation of the coalescent with recombination for chromosome-sized regions over hundreds of thousands of samples is possible, and substantially faster than present-day approximate methods. We can also analyse the results orders of magnitude more quickly than with existing methods.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted November 30, 2015.
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Efficient coalescent simulation and genealogical analysis for large sample sizes
Jerome Kelleher, Alison M. Etheridge, Gil McVean
bioRxiv 033118; doi: https://doi.org/10.1101/033118
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Efficient coalescent simulation and genealogical analysis for large sample sizes
Jerome Kelleher, Alison M. Etheridge, Gil McVean
bioRxiv 033118; doi: https://doi.org/10.1101/033118

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