SimPEL

SimPEL estimates statistical power for sequencing-based genotype-phenotype association studies of low-prevalence conditions, including rare diseases and infrequent adverse drug reactions, using simulation-based modeling.

Key Features:

• Simulation-Based Power Estimation: Employs a simulation-based methodology to estimate statistical power and model realistic study parameters and outcomes.
• Integration with Gene Annotation Resources: Incorporates genetic annotation resources into association analyses to facilitate ranking of potential causal genes.
• Customizable Parameters: Allows specification of penetrance for putative causal alleles and incorporation of pathogenic scoring systems to model diverse study designs.
• Power Trend Characterization: Simulates varying study designs to capture power trends consistent with observations from the literature on low-frequency condition studies.

Scientific Applications:

• Rare Disease Research: Estimates power and informs sample size and design choices for sequencing-based genotype-phenotype association studies of rare diseases.
• Pharmacogenomics: Evaluates power for detecting genotype-phenotype associations related to infrequent adverse drug reactions and other pharmacogenomic phenotypes.

Methodology:

Simulation-based power estimation; integration of genetic annotation resources into association analyses with gene ranking; configurable parameters including penetrance and pathogenic scoring systems; and simulation of varied study designs to assess power trends.