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 …

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 …

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 …

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

IP Gorlov, OY Gorlova, SR Sunyaev, MR Spitz… - The American Journal of …, 2008 - cell.com
Currently, single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) of>
5% are preferentially used in case-control association studies of common human diseases …

Machine learning for detecting gene-gene interactions: a review

BA McKinney, DM Reif, MD Ritchie, JH Moore - Applied bioinformatics, 2006 - Springer
Complex interactions among genes and environmental factors are known to play a role in
common human disease aetiology. There is a growing body of evidence to suggest that …

Genetics of Alzheimer's disease

PG Ridge, MTW Ebbert… - BioMed research …, 2013 - Wiley Online Library
Alzheimer's disease is the most common form of dementia and is the only top 10 cause of
death in the United States that lacks disease‐altering treatments. It is a complex disorder …

Detection of gene× gene interactions in genome-wide association studies of human population data

SK Musani, D Shriner, N Liu, R Feng, CS Coffey, N Yi… - Human …, 2007 - karger.com
Empirical evidence supporting the commonality of gene× gene interactions, coupled with
frequent failure to replicate results from previous association studies, has prompted …

Differentially expressed genes in metastatic advanced Egyptian bladder cancer

ARN Zekri, ZK Hassan, AA Bahnassy… - Asian Pacific Journal …, 2015 - journal.waocp.org
Background: Bladder cancer is one of the most common cancers worldwide. Gene
expression profiling usingmicroarray technologies improves the understanding of cancer …

Characterizing genetic interactions in human disease association studies using statistical epistasis networks

T Hu, NA Sinnott-Armstrong, JW Kiralis, AS Andrew… - BMC …, 2011 - Springer
Background Epistasis is recognized ubiquitous in the genetic architecture of complex traits
such as disease susceptibility. Experimental studies in model organisms have revealed …

Bladder cancer SNP panel predicts susceptibility and survival

AS Andrew, J Gui, AC Sanderson, RA Mason… - Human genetics, 2009 - Springer
Bladder cancer is the fourth most common malignancy in men and the eighth most common
in women in western countries. Single nucleotide polymorphisms (SNPs) in genes that …