[Paper] Using multiple populations to investigate deviations across geographies – structural variation edition




A recent study that is a collaboration between Marie, Naoki Masuda and Gokcumen lab at the University at Buffalo is now online Molecular Biology and Evolution. It is a clever construct by Naoki to collectively analyze the allele frequency distributions of different structural variants across the globe. We identified several interesting candidates, including those that were already on our collective radar (e.g., Defensins, Amylase, CCL, SIGLECs, etc.) but also some others that may be of interest.

Our results also add to the growing notion that multi-allelic gene copy number variation is a major driver for functional/phenotypic diversity.