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bioRxiv · 10.1101/534552

SimRVSequences: an R package to simulate genetic sequence data for pedigrees

Nieuwoudt, C.·Brooks-Wilson, A.·Graham, J.
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Abstract

1SummaryFamily-based studies have several advantages over case-control studies for finding causal rare variants for a disease; these include increased power, smaller sample size requirements, and improved detection of sequencing errors. However, collecting suitable families and compiling their data is time-consuming and expensive. To evaluate methodology to identify causal rare variants in family-based studies, one can use simulated data. For this purpose we present the R package SimRVSequences. Users supply a sample of pedigrees and single-nucleotide variant data from a sample of unrelated individuals representing the pedigree founders. Users may also model genetic heterogeneity among families. For ease of use, SimRVSequences offers methods to import and format single-nucleotide variant data and pedigrees from existing software.\n\nAvailability and ImplementationSimRVSequences is available as a library for R[≥] 3.5.0 on the comprehensive R archive network.

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Nieuwoudt, C., Brooks-Wilson, A., Graham, J.. 2019-03-04. SimRVSequences: an R package to simulate genetic sequence data for pedigrees. https://doi.org/10.1101/534552

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