Login / Signup

Simulating pedigrees ascertained for multiple disease-affected relatives.

Christina NieuwoudtSamantha J JonesAngela Brooks-WilsonJinko Graham
Published in: Source code for biology and medicine (2018)
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.
Keyphrases
  • magnetic resonance imaging
  • computed tomography
  • magnetic resonance
  • diffusion weighted imaging