Genome sequence of a Mongolian individual

We present the genome sequence of a Mongolian male individual. The genome is assembled using short reads produced from the massive parallel sequencing method, resulting in 130.8-fold genome coverage. We identify high-confidence variation sets validated by chip genotyping and PCR-Sanger sequencing, including 3.7 million single nucleotide polymorphisms and 756,234 short insertions and deletions. We assign the paternal inheritance of the individual to the lineage D3a through Y haplogroup analysis and infer Genghis Khan had a common paternal ancestor with Tibeto-Burman populations. We investigate the gene flow between Mongolians and other ethnic groups and demonstrate that the genetic influences on them most likely resulted from the expansion of the Mongol Empire. The Mongolian genome lays a foundation to further understand human evolution and explore population specific genetic causes of diseases/traits in Mongolians and closely related groups.