RWAS / LRT 0.5 – Groupwise Association Test for Rare Variants

RWAS / LRT 0.5


RWAS (Rare variant Weighted Aggregate Statistic) is a groupwise association test for identifying associations of groups of rare variants. RWAS groups variants and computes a weighted sum of differences in mutation counts between case and control individuals. Weights of RWAS are estimated from data to achieve nearly optimal power under a disease model in which all variants make an equally small contribution to population disease risk.

LRT (Likelihood Ratio Test) is a method that tries to identify which variants are causal by taking advantage of both prior information (of how likely each variant is functional) and data. LRT uses this information (of which variants are likely causal) to better detect associations of groups of rare variants.


 Jae Hoon Sul




  • Linux / Mac OsX / Windows
  • Java 





Jae Hoon Sul, Buhm Han, Dan He, Eleazar Eskin.
An optimal weighted aggregated association test for identification of rare variants involved in common diseases.”
enetics March 2, 2011 genetics.110.125070

Jae Hoon Sul, Buhm Han, Eleazar Eskin.
“Increasing Power of Groupwise Association Test with Likelihood Ratio Test.”
In Proceedings of the Fifteenth Annual Conference on Research in Computational Biology (RECOMB-2011). Vancouver, Canada: March 28th-31st, 2011