TY - GEN
T1 - Genomic analyses inform on migration events during the peopling of Eurasia
AU - Pagani, Luca
AU - Lawson, Daniel John
AU - Jagoda, Evelyn
AU - Morseburg, Alexander
AU - Eriksson, Anders
AU - Mitt, Mario
AU - Clemente, Florian
AU - Hudjashov, Georgi
AU - DeGiorgio, Michael
AU - Saag, Lauri
AU - Wall, Jeffrey D.
AU - Cardona, Alexia
AU - Magi, Reedik
AU - Sayres, Melissa A. Wilson
AU - Kaewert, Sarah
AU - Inchley, Charlotte
AU - Scheib, Christina L.
AU - Jarve, Mari
AU - Karmin, Monika
AU - Jacobs, Guy S.
AU - Antao, Tiago
AU - Iliescu, Florin Mircea
AU - Kushniarevich, Alena
AU - Ayub, Qasim
AU - Tyler-Smith, Chris
AU - Mormina, Maru
PY - 2016/9/21
Y1 - 2016/9/21
N2 - High-coverage whole-genome sequence studies have so far focused
on a limited number1 of geographically restricted populations2–5,
or been targeted at specific diseases, such as cancer6. Nevertheless,
the availability of high-resolution genomic data has led to the
development of new methodologies for inferring population
history7–9 and refuelled the debate on the mutation rate in humans10.
Here we present the Estonian Biocentre Human Genome Diversity
Panel (EGDP), a dataset of 483 high-coverage human genomes
from 148 populations worldwide, including 379 new genomes from
125 populations, which we group into diversity and selection
sets. We analyse this dataset to refine estimates of continent-wide
patterns of heterozygosity, long- and short-distance gene flow, archaic
admixture, and changes in effective population size through time as
well as for signals of positive or balancing selection. We find a genetic
signature in present-day Papuans that suggests that at least 2% of
their genome originates from an early and largely extinct expansion
of anatomically modern humans (AMHs) out of Africa. Together
with evidence from the western Asian fossil record11, and admixture
between AMHs and Neanderthals predating the main Eurasian
expansion12, our results contribute to the mounting evidence for
the presence of AMHs out of Africa earlier than 75,000 years ago.
AB - High-coverage whole-genome sequence studies have so far focused
on a limited number1 of geographically restricted populations2–5,
or been targeted at specific diseases, such as cancer6. Nevertheless,
the availability of high-resolution genomic data has led to the
development of new methodologies for inferring population
history7–9 and refuelled the debate on the mutation rate in humans10.
Here we present the Estonian Biocentre Human Genome Diversity
Panel (EGDP), a dataset of 483 high-coverage human genomes
from 148 populations worldwide, including 379 new genomes from
125 populations, which we group into diversity and selection
sets. We analyse this dataset to refine estimates of continent-wide
patterns of heterozygosity, long- and short-distance gene flow, archaic
admixture, and changes in effective population size through time as
well as for signals of positive or balancing selection. We find a genetic
signature in present-day Papuans that suggests that at least 2% of
their genome originates from an early and largely extinct expansion
of anatomically modern humans (AMHs) out of Africa. Together
with evidence from the western Asian fossil record11, and admixture
between AMHs and Neanderthals predating the main Eurasian
expansion12, our results contribute to the mounting evidence for
the presence of AMHs out of Africa earlier than 75,000 years ago.
KW - genomic data
KW - genomic analyses
KW - population history
M3 - Other contribution
ER -