1 Abstract
Summary Family-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 Implementation SimRVSequences is available as a library for R ≥ 3.5.0 on the comprehensive R archive network.
Footnotes
This update includes edited versions of both the manuscript and supplemental material for improved readability. Additionally, we have included a supplementary table that compares our software to existing software. Note: My apologies, I submitted the wrong version of the manuscript in the last revision (13 May 2019). I submitted the shortened version, which we plan to submit as an application note BioInformatics, instead of the full version.
