Optimal tests for rare variant effects in sequencing association studies.

Abstract excerpt

With development of massively parallel sequencing technologies, there is a substantial need for developing powerful rare variant association tests. Common approaches include burden and non-burden tests. Burden tests assume all rare variants in the target region have effects on the phenotype in the same direction and of similar magnitude. The recently proposed sequence kernel association test (SKAT) (Wu, M. C.,...

Topics

• Computer Simulation
• Data Interpretation, Statistical
• Genetic Association Studies
• Genetic Variation
• Humans
• Sample Size
• Sequence Analysis, DNA