Genome-wide insights into the genetic history of human populations

• Published in: Investigative genetics Vol. 6; no. 1; p. 6
• Main Authors: Pugach, Irina, Stoneking, Mark
• Format: Journal Article
• Language: English
• Published: England BioMed Central 01.04.2015
• Subjects: Review; Ascertainment bias; Demographic history; Genome-wide data
• ISSN: 2041-2223; 2041-2223
• DOI: 10.1186/s13323-015-0024-0

Although mtDNA and the non-recombining Y chromosome (NRY) studies continue to provide valuable insights into the genetic history of human populations, recent technical, methodological and computational advances and the increasing availability of large-scale, genome-wide data from contemporary human populations around the world promise to reveal new aspects, resolve finer points, and provide a more detailed look at our past demographic history. Genome-wide data are particularly useful for inferring migrations, admixture, and fine structure, as well as for estimating population divergence and admixture times and fluctuations in effective population sizes. In this review, we highlight some of the stories that have emerged from the analyses of genome-wide SNP genotyping data concerning the human history of Southern Africa, India, Oceania, Island South East Asia, Europe and the Americas and comment on possible future study directions. We also discuss advantages and drawbacks of using SNP-arrays, with a particular focus on the ascertainment bias, and ways to circumvent it.