Pathway-based approach using hierarchical components of collapsed rare variants.

ABSTRACT:

Motivation

To address 'missing heritability' issue, many statistical methods for pathway-based analyses using rare variants have been proposed to analyze pathways individually. However, neglecting correlations between multiple pathways can result in misleading solutions, and pathway-based analyses of large-scale genetic datasets require massive computational burden. We propose a Pathway-based approach using HierArchical components of collapsed RAre variants Of High-throughput sequencing data (PHARAOH) for the analysis of rare variants by constructing a single hierarchical model that consists of collapsed gene-level summaries and pathways and analyzes entire pathways simultaneously by imposing ridge-type penalties on both gene and pathway coefficient estimates; hence our method cons

SUBMITTER: Lee S 

PROVIDER: S-EPMC5013912 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature