- Open Access
Genome-wide insights into the genetic history of human populations
Investigative Genetics volume 6, Article number: 6 (2015)
Although mtDNA and the non-recombining Y chromosome (NRY) studies
- Open Access
Genome-wide insights into the genetic history of human populations
Investigative Genetics volume 6, Article number: 6 (2015)
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.
Studies of the genetic history of human populations have relied largely on variation in the single-locus, uniparentally inherited mtDNA and non-recombining Y chromosome (NRY). While mtDNA and the NRY continue to provide valuable insights (as reviewed elsewhere in this issue), especially with the advent of new sequencing methods based on next-generation platforms, genome-wide data are increasingly supplementing and supplanting single-locus studies. Genome-wide data generally provide more reliable insights into population history in that they are based on analyses of many independent loci, whereas the history of a single locus may depart from that of the population as a whole because of chance events or selection influencing that