Pathway-based approach using HierArchical structure of collapsed RAre variants Of High-throughput sequencing data (PHARAOH) is a novel statistical approach for an analysis of rare variants using pathway information.
PHARAOH is possible to investigate an association between a phenotype and each pathway or entire pathways simultaneously, regarding the relatedness across entire pathways, using collapsed rare variants using gene information.
PHARAOH implemented doubly ridge method for an analysis of entire pathways.
Contact
The PHARAOH program has developed by Sungyoung Lee (biznok@gmail.com)
(Interdisciplinary Program of Bioinformatics, Seoul National University, Korea.)