Rare variation facilitates inferences of fine-scale population structure in humans.

ABSTRACT: Understanding the genetic structure of human populations has important implications for the design and interpretation of disease mapping studies and reconstructing human evolutionary history. To date, inferences of human population structure have primarily been made with common variants. However, recent large-scale resequencing studies have shown an abundance of rare variation in humans, which may be particularly useful for making inferences of fine-scale population structure. To this end, we used an information theory framework and extensive coalescent simulations to rigorously quantify the informativeness of rare and common variation to detect signatures of fine-scale population structure. We show that rare variation affords unique insights into patterns of recent population structure. F

SUBMITTER: O'Connor TD 

PROVIDER: S-EPMC4327153 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature