Marie's broad research goal is to elucidate the role of genomic variants, especially, structural variants (insertions, deletions, copy number variants) in human evolution.
Marie has studied the evolution of the deletion polymorphisms of the cellular detoxification gene, GSTM1. This gene deletion is found in more than half of human genomes and is associated with cancer. She’s used experimental methods and developed bioinformatics methods and revealed recurrent deletions of the same gene formed in the human and chimpanzee lineages independently. Moreover, she detected signatures of adaptive evolution related to a common deletion in East Asian populations by resolving the haplotype architecture in this locus. In the broader context, her work shed light on the mutational mechanisms that lead to the formation and retention of common gene deletions in humans.
Currently, she employs an evolutionary approach to investigate three different biological problems. First, she has been working on the evolutionary transcriptomics analysis to understand the biological basis of cellular senescence. Second, she has established the linkage-disequilibrium based method to detect the insertion sites of polymorphic duplications in human genomes; this method made it possible to reveal the evolutionary history and phenotypic impact of polymorphic duplications. Third, she tries to delineate the evolutionary and functional impact of an exonic deletion polymorphism of the growth hormone receptor gene by combining human population genetics and integrative analyses of the phenotypic impact of this variant in a CRISPR-Cas9 mouse model.