Detecting gene–gene interactions that underlie human diseases

HJ Cordell - Nature Reviews Genetics, 2009 - nature.com
Following the identification of several disease-associated polymorphisms by genome-wide
association (GWA) analysis, interest is now focusing on the detection of effects that, owing to …

Bioinformatics challenges for genome-wide association studies

JH Moore, FW Asselbergs, SM Williams - Bioinformatics, 2010 - academic.oup.com
Motivation: The sequencing of the human genome has made it possible to identify an
informative set of> 1 million single nucleotide polymorphisms (SNPs) across the genome …

Multifactor dimensionality reduction software for detecting gene–gene and gene–environment interactions

LW Hahn, MD Ritchie, JH Moore - Bioinformatics, 2003 - academic.oup.com
Motivation: Polymorphisms in human genes are being described in remarkable numbers.
Determining which polymorphisms and which environmental factors are associated with …

The ubiquitous nature of epistasis in determining susceptibility to common human diseases

JH Moore - Human heredity, 2003 - karger.com
There is increasing awareness that epistasis or gene-gene interaction plays a role in
susceptibility to common human diseases. In this paper, we formulate a working hypothesis …

A flexible computational framework for detecting, characterizing, and interpreting statistical patterns of epistasis in genetic studies of human disease susceptibility

JH Moore, JC Gilbert, CT Tsai, FT Chiang… - Journal of theoretical …, 2006 - Elsevier
Detecting, characterizing, and interpreting gene–gene interactions or epistasis in studies of
human disease susceptibility is both a mathematical and a computational challenge. To …

Bayesian inference of epistatic interactions in case-control studies

Y Zhang, JS Liu - Nature genetics, 2007 - nature.com
Epistatic interactions among multiple genetic variants in the human genome may be
important in determining individual susceptibility to common diseases. Although some …

A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction

DR Velez, BC White, AA Motsinger… - … Official Publication of …, 2007 - Wiley Online Library
Multifactor dimensionality reduction (MDR) was developed as a method for detecting
statistical patterns of epistasis. The overall goal of MDR is to change the representation …

Power of multifactor dimensionality reduction for detecting gene‐gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic …

MD Ritchie, LW Hahn, JH Moore - Genetic Epidemiology: The …, 2003 - Wiley Online Library
The identification and characterization of genes that influence the risk of common, complex
multifactorial diseases, primarily through interactions with other genes and other …

Epistasis and its implications for personal genetics

JH Moore, SM Williams - The American Journal of Human Genetics, 2009 - cell.com
The widespread availability of high-throughput genotyping technology has opened the door
to the era of personal genetics, which brings to consumers the promise of using genetic …

Beyond Mendel: an evolving view of human genetic disease transmission

JL Badano, N Katsanis - Nature Reviews Genetics, 2002 - nature.com
Methodological and conceptual advances in human genetics have led to the identification of
an impressive number of human disease genes. This wealth of information has also …