no. 2
A Mutual Information-based method to select informative pairs of variables in case-control genetic association studies to improve the power of detecting interaction between genetic variants
Journal de la société française de statistique, Tome 159 (2018) no. 2, pp. 84-110.

Nous proposons une nouvelle méthode de sélection de marqueurs biologiques, appelée EpiTag, permettant la détection d’interaction de gènes dans les études d’association à l’échelle du génome. Notre méthode extrait un sous-ensemble de marqueurs qui caractérise de façon optimale la variabilité de la totalité des couples de marqueurs, là où les approches usuelles considèrent les marqueurs de façon univariée. Nous proposons de quantifier le lien entre couples de marqueurs par l’Information Mutuelle Normalisée. La faisabilité de notre méthode est validée à partir d’une étude de la puissance de détection d’interaction sur un ensemble de jeu de données avec une structure de dépendance simulée ou bien provenant de donnéées réelles. EpiTag réalise de bonnes performances en terme de puissance, et ce quelque soit la force du signal ou la dimension des données testées, par rapport aux autres méthodes.

We propose a novel procedure for tagging Single Nucleotide Polymorphisms (SNPs), called EpiTag, to deal with interaction detection in Genome-Wide Association Studies. The aim of our method is to select a set of tag-SNPs that optimally represents the whole set of pairs of SNPs whereas usual approaches are univariate. The linkage between two pairs of SNPs is measured by the Normalized Mutual Information. The proposed algorithm is assessed considering the power of interaction detection compared to a no-tagging strategy and a usual one-dimensional tagging procedure, both on simulated and real genotype structures. EpiTag demonstrates good power performances along with various signal strengths or data sizes w.r.t the competing methods.

Keywords: Genome-wide association studies, Gene-gene interaction, Mutual information, Selection of pairs of variables
Mots clés : Études d’association à l’échelle du génome, Interaction entre gènes, Information mutuelle, Sélection de paires de variables 
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     title = {A {Mutual} {Information-based} method to select informative pairs of variables in case-control genetic association studies to improve the power of detecting interaction between genetic variants},
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Emily, Mathieu; Friguet, Chloé. A Mutual Information-based method to select informative pairs of variables in case-control genetic association studies to improve the power of detecting interaction between genetic variants. Journal de la société française de statistique, Tome 159 (2018) no. 2, pp. 84-110. http://www.numdam.org/item/JSFS_2018__159_2_84_0/

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