SimRVPedigree: Simulate pedigrees ascertained for disease status

Description Details References


The SimRVPedigree package provides methods to simulate and manipulate pedigrees ascertained to contain multiple relatives affected by a rare disease.


Family-based studies to identify genetic susceptibility factors associated with rare diseases are regaining traction. The resurgence in popularity is due to the fact that family-based studies have more power to detect rare variants, require smaller sample sizes, and can more accurately detect sequencing errors than case-control studies, Wijsman (2012). However, identifying a suitable number of families for analysis can require years of continued collaboration between researchers and clinicians. As a result, collecting new data to replicate findings or evaluate methodology is impractical. The SimRVPedigree package aims to address this problem by providing a platform to randomly simulate families ascertained to contain multiple relatives affected by a rare disease. The distinguishing feature of the SimRVPedigree package is that it aims to mimic the process of family development, while allowing users to incorporate multiple facets of family ascertainment.


Nieuwoudt, Christina and Jones, Samantha J and Brooks-Wilson, Angela and Graham, Jinko (2018). Simulating Pedigrees Ascertained for Multiple Disease-Affected Relatives. Source Code for Biology and Medicine, 13:2.

Ellen M. Wijsman (2012). The role of large pedigrees in an era of high-throughput sequencing. Human Genetetics, 131, 1555-1563

SimRVPedigree documentation built on Feb. 10, 2020, 1:07 a.m.