5 papers
Exact association-test distributions for prior-informed stepwise SNP prioritization
N. Kossi Doulabe, Anne-Sophie Charest, Lajmi Lakhal-Chaieb
Prioritizing causal variants in Genome-Wide Association Studies (GWAS) is challenging due to linkage disequilibrium and high dimensionality. We propose an iterative algorithm for t…
Risk prediction models for breast cancer integrating family history of breast cancer and prophylactic interventions
Siriac Seboka, Laurent Briollais, Yun-Hee Choi +2
Breast cancer risk assessment and prediction models are very important tools for the clinical management of healthy women carrying pathogenic variants in known cancer genes. We pro…
Global testing of SNP-methylation interactions on binary phenotypes via a logistic functional regression model
Yvelin Gansou, Karim Oualkacha, Marzia Angela Cremona +1
Understanding how genetic and epigenetic factors jointly influence binary health outcomes remains a major challenge in biomedical research. We propose a global test for the overall…
A Functional Approach to Testing Overall Effect of Interaction Between DNA Methylation and SNPs
Yvelin Gansou, Karim Oualkacha, Marzia Angela Cremona +1
We introduce a test for the overall effect of interaction between DNA methylation and a set of single nucleotide polymorphisms (SNPs) on a quantitative phenotype. The developed inf…
Detecting differentially methylated regions in bisulfite sequencing data using quasi-binomial mixed models with smooth covariate effect estimates
Kaiqiong Zhao, Karim Oualkacha, Lajmi Lakhal-Chaieb +6
Identifying disease-associated changes in DNA methylation can help to gain a better understanding of disease etiology. Bisulfite sequencing technology allows the generation of meth…