Fine-scale genetic structure and rare variant frequencies

Abstract

AbstractIn response to the current challenge in genetic studies to make new associations, we advocate for a shift toward leveraging population fine-scale structure. Our exploration brings to light distinct fine-structure within populations having undergone a founder effect, challenging the prior perception of homogeneity. This underscores that smaller, but well-defined cohorts, demonstrate an important increase in rare variant frequencies, offering a promising avenue for new genetic variants’ discovery.