Biostatistics · 2007 · 153 citations · 13 references
Public HealthBiostatisticsGeneticsEpidemiologyMedical GeneticsStatistical GeneticsBreast Cancer Risk AssessmentDecision TreesGenetic Risk AssessmentGenetic Risk PredictionGenome-wide Association StudiesGenotype-phenotype Association AnalysisCancer Risk Prediction ModelsCase-control Study DesignGene-disease Association ModelingGene-environment AssociationsRandom ForestsSingle-nucleotide Polymorphism Risk AnalysisSingle-nucleotide Polymorphisms
Interactions of single nucleotide polymorphisms (SNPs) are assumed to be responsible for complex diseases such as sporadic breast cancer. Important goals of studies concerned with such genetic data are thus to identify combinations of SNPs that lead to a higher risk of developing a disease and to measure the importance of these interactions. There are many approaches based on classification methods such as CART and random forests that allow measuring the importance of single variables. But none of these methods enable the importance of combinations of variables to be quantified directly. In this paper, we show how logic regression can be employed to identify SNP interactions explanatory for the disease status in a case-control study and propose 2 measures for quantifying the importance of these interactions for classification. These approaches are then applied on the one hand to simulated data sets and on the other hand to the SNP data of the GENICA study, a study dedicated to the identification of genetic and gene-environment interactions associated with sporadic breast cancer.
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Leo Breiman · Machine Learning · 2001 · 126.2K citations · Full text
Classification and Regression Trees.
Alexander Gordon, Leo Breiman, Jerome H. Friedman et al. · Biometrics · 1984 · 23.9K citations
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Gene Selection for Cancer Classification using Support Vector Machines
Isabelle Guyon, Jason Weston, S. Barnhill et al. · Machine Learning · 2002 · 9.8K citations · Full text