2-AIN-506 a 2-AIN-252: Seminár z bioinformatiky (2) a (4)
Leto 2016

Heng Li, Richard Durbin. Inference of human population history from individual whole-genome sequences. Nature, 475(7357):493-496. 2011.

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The history of human population size is important for understanding human
evolution. Various studies have found evidence for a founder event (bottleneck)
in East Asian and European populations, associated with the human dispersal
out-of-Africa event around 60 thousand years (kyr) ago. However, these studies
have had to assume simplified demographic models with few parameters, and they do
not provide a precise date for the start and stop times of the bottleneck. Here, 
with fewer assumptions on population size changes, we present a more detailed
history of human population sizes between approximately ten thousand and a
million years ago, using the pairwise sequentially Markovian coalescent model
applied to the complete diploid genome sequences of a Chinese male (YH), a Korean
male (SJK), three European individuals (J. C. Venter, NA12891 and NA12878 (ref.
9)) and two Yoruba males (NA18507 (ref. 10) and NA19239). We infer that European 
and Chinese populations had very similar population-size histories before 10-20
kyr ago. Both populations experienced a severe bottleneck 10-60 kyr ago, whereas 
African populations experienced a milder bottleneck from which they recovered
earlier. All three populations have an elevated effective population size between
60 and 250 kyr ago, possibly due to population substructure. We also infer that
the differentiation of genetically modern humans may have started as early as
100-120 kyr ago, but considerable genetic exchanges may still have occurred until
20-40 kyr ago.