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

Abstract

1AbstractSummaryFamily-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.Availability and ImplementationSimRVSequences is available as a library for R≥ 3.5.0 on the comprehensive R archive network.