Simulating pedigrees ascertained for multiple disease-affected relatives.

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

SUBMITTER: Nieuwoudt C 

PROVIDER: S-EPMC6190569 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature