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Open AccessSimultaneous selection of multiple important single nucleotide polymorphisms in familial genome wide association studies data
We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current pract...
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Open AccessPublisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus
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Open AccessElucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus
Many individual genetic risk loci have been associated with multiple common human diseases. However, the molecular basis of this pleiotropy often remains unclear. We present an integrative approach to reveal t...
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Article
Impact of body mass index on pathological complete response following neoadjuvant chemotherapy in operable breast cancer: a meta-analysis
The impact of an increased body mass index (BMI) on outcomes of neoadjuvant chemotherapy (NACT) in breast cancer remains controversial. The purpose of this study was to analyze the impact of BMI on pathologica...
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Modeling the Dependence Structure in Genome Wide Association Studies of Binary Phenotypes in Family Data
Genome-wide association studies (GWASs) are a popular tool for detecting association between genetic variants or single nucleotide polymorphisms (SNPs) and complex traits. Family data introduce complexity due ...
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Adaptive SNP-Set Association Testing in Generalized Linear Mixed Models with Application to Family Studies
In genome-wide association studies (GWAS), it has been increasingly recognized that, as a complementary approach to standard single SNP analyses, it may be beneficial to analyze a group of functionally related...
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Article
Open AccessResampling-based tests for Lasso in genome-wide association studies
Genome-wide association studies involve detecting association between millions of genetic variants and a trait, which typically use univariate regression to test association between each single variant and the...
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Article
Open AccessPowerful association test combining rare variant and gene expression using family data from Genetic Analysis Workshop 19
Genetic association studies aim to test for disease or trait association with genetic variants, either throughout the human genome or in regions of interest. However, for most diseases and traits, the combined...
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Article
A Genome-Wide Association Study of Behavioral Disinhibition
We report results from a genome wide association study (GWAS) of five quantitative indicators of behavioral disinhibition: nicotine, alcohol consumption, alcohol dependence, illicit drugs, and non-substance re...
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Article
New gene functions in megakaryopoiesis and platelet formation
Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limi...
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Open AccessPower of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene Interaction in a case-control study
There is a growing awareness that interaction between multiple genes play an important role in the risk of common, complex multi-factorial diseases. Many common diseases are affected by certain genotype combin...
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Pharmacogenetic effect of the UGT polymorphisms on mycophenolate is modified by calcineurin inhibitors
Mycophenolic acid (MPA) is glucuronidated primarily by uridine diphosphate glucuronosyltransferase enzymes (UGT) 1A9 and 1A8. These enzymes are highly polymorphic resulting in low activity and high expression ...
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Open AccessComparison of marker types and map assumptions using Markov chain Monte Carlo-based linkage analysis of COGA data
We performed multipoint linkage analysis of the electrophysiological trait ECB21 on chromosome 4 in the full pedigrees provided by the Collaborative Study on the Genetics of Alcoholism (COGA). Three Markov cha...
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Open AccessApproaches to map** genetically correlated complex traits
Our Markov chain Monte Carlo (MCMC) methods were used in linkage analyses of the Framingham Heart Study data using all available pedigrees. Our goal was to detect and map loci associated with covariate-adjuste...