A general framework for detecting disease associations with rare variants in sequencing studies.

Abstract excerpt

Biological and empirical evidence suggests that rare variants account for a large proportion of the genetic contributions to complex human diseases. Recent technological advances in high-throughput sequencing platforms have made it possible for researchers to generate comprehensive information on rare variants in large samples. We provide a general framework for association testing with rare variants by combining...

Topics

• Computer Simulation
• Gene Frequency
• Genetic Diseases, Inborn
• Genome-Wide Association Study
• Humans
• Models, Genetic
• Mutation
• Phenotype
• Rare Diseases
• Regression Analysis
• Research Design
• Software