Characterizing redescriptions using persistent homology to isolate genetic pathways contributing to pathogenesis.

ABSTRACT:

Background

Complex diseases may have multiple pathways leading to disease. E.g. coronary artery disease evolves from arterial damage to their epithelial layers, but has multiple causal pathways. More challenging, those pathways are highly correlated within metabolic syndrome. The challenge is to identify specific clusters of phenotype characteristics (composite phenotypes) that may reflect these different etiologies. Further, GWAS seeking to identify SNPs satisfying multiple composite phenotype descriptions allows for lower false positive rates at lower α thresholds, allowing for the possibility of reducing false negatives. This may provide a window into the missing heritability problem.

Methods

We identify significant phenotype patterns, and identify fuzzy redescriptions am

SUBMITTER: Platt DE 

PROVIDER: S-EPMC4895260 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature