Paper Info
Title
Genotype Correlation Analysis Reveals Pathway-Based Functional Disequilibrium and Potential Epistasis in the Human Interactome.
Abstract
Epistasis is thought to be a pervasive part of complex phenotypes due to the dynamics and complexity of biological systems, and a further understanding of epistasis in the context of biological pathways may provide insight into the etiology of complex disease. In this study, we use genotype data from the International HapMap Project to characterize the functional dependencies between alleles in the human interactome as defined by KEGG pathways. We performed chi-square tests to identify non-independence between functionally- related SNP pairs within parental Caucasian and Yoruba samples. We further refine this list by testing for skewed transmission of pseudo-haplotypes to offspring using a haplotype-based TDT test. From these analyses, we identify pathways enriched for functional disequilibrium, and a set of 863 SNP pairs (representing 453 gene pairs) showing consistent non-independence and transmission distortion. These results represent gene pairs with strong evidence of epistasis within the context of a biological function.
Year
DOI
Venue
2014
10.1007/978-3-662-45523-4_72
Lecture Notes in Computer Science
Field
DocType
Volume
Genotype,Human interactome,Biology,International HapMap Project,Epistasis,Haplotype,KEGG,Computational biology,Bioinformatics,Transmission disequilibrium test,SNP
Conference
8602
ISSN
Citations 
PageRank 
0302-9743
0
0.34
References 
Authors
0
2
Name
Order
Citations
PageRank
William S. Bush116118.45
Jonathan L. Haines2684.74