Journal article

SimPEL: Simulation-based power estimation for sequencing studies of low-prevalence conditions

Lauren Mak, Minghao Li, Chen Cao, Paul Gordon, Maja Tarailo-Graovac, Chad Bousman, Pei Wang, Quan Long

Genetic Epidemiology | WILEY | Published : 2018


Power estimations are important for optimizing genotype-phenotype association study designs. However, existing frameworks are designed for common disorders, and thus ill-suited for the inherent challenges of studies for low-prevalence conditions such as rare diseases and infrequent adverse drug reactions. These challenges include small sample sizes and the need to leverage genetic annotation resources in association analyses for the purpose of ranking potential causal genes. We present SimPEL, a simulation-based program providing power estimations for the design of low-prevalence condition studies. SimPEL integrates the usage of gene annotation resources for association analyses. Customizabl..

View full abstract

University of Melbourne Researchers