Simulating Pedigrees Ascertained for Multiple Disease-affected Relatives

Resource type
Date created
2018-10-15
Authors/Contributors
Abstract
Background Studies that ascertain families containing multiple relatives affected by disease can be useful for identification of causal, rare variants from next-generation sequencing data.Results We present the R package SimRVPedigree, which allows researchers to simulate pedigrees ascertained on the basis of multiple, affected relatives. By incorporating the ascertainment process in the simulation, SimRVPedigree allows researchers to better understand the within-family patterns of relationship amongst affected individuals and ages of disease onset.Conclusions Through simulation, we show that affected members of a family segregating a rare disease variant tend to be more numerous and cluster in relationships more closely than those for sporadic disease. We also show that the family ascertainment process can lead to apparent anticipation in the age of onset. Finally, we use simulation to gain insight into the limit on the proportion of ascertained families segregating a causal variant. SimRVPedigree should be useful to investigators seeking insight into the family-based study design through simulation.
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Published as
Nieuwoudt, C., Jones, S., Brooks-Wilson, A. et al. Simulating pedigrees ascertained for multiple disease-affected relatives. Source Code Biol Med 13, 2 (2018). DOI: https://doi.org/10.1186/s13029-018-0069-6.
Publication title
Source Code Biol Med
Document title
Simulating Pedigrees Ascertained for Multiple Disease-affected Relatives
Date
2018
Volume
13
Issue
2
Copyright statement
Copyright is held by the author(s).
Scholarly level
Peer reviewed?
Yes
Language
Member of collection
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document.pdf 1.01 MB