A team of scientists led by Svaante Pääbo at Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany updated the genome sequence of Neanderthal and released a high quality genome sequence data to the public.
Neanderthals, an extinct relative of human, believed to have lived in parts of Europe and western Asia and became extinct about 30,000 years ago. It is also believed that Neanderthals and the modern human lived and shared space simultaneously possibly as early as 80,000 years ago.
The Neanderthal genome was sequenced from a toe bone discovered in Denisova Cave in southern Siberia in 2010. A draft sequence of the Neanderthal genome was published earlier in 2010 by Svaante Paabo’s team in Science. It is interesting to note that Denisova, another extinct relative of human, was also found at the same location and sequenced to 30X coverage in 2010.
The new high-quality Neanderthal genome sequence data has 50X coverage at each nucleotide position on an average. The draft version of the Neaderthal genome had just 1X coverage on an average. In the press release announcing the release of Neanderthal genome data, Dr. Kay Prüfer, who coordinates the Neaderthal genomic analyses, said
The genome is of very high quality. It matches the quality of the Denisovan genome, presented last year, and is as good as or even better than the multiple present-day human genomes available to date.
The researchers are yet to publish the results from the new Neanderthal genome sequence. Giving a bit more details on the quality of data, the press release said that “99.9% of the 1.7GB of uniquely mappable DNA sequences in the human genome are covered at least ten times.” And they expect the contamination from modern human DNA is just about 1%.
The early release of high-quality genome sequence data to the public comes with the restriction of fair use defined by “Ft. Lauderdale principles”. However, the data can used to for individual gene/feature studies before the original publication. The lead scientist and Neanderthal genome expert, Svaante Pääbo said in the press release that
We are in the process of comparing this Neandertal genome to the Denisovan genome as well as to the draft genomes of other Neandertals. We will gain insights into many aspects of the history of both Neandertals and Denisovans and refine our knowledge about the genetic changes that occurred in the genomes of modern humans after they parted ways with the ancestors of Neandertals and Denisovans.
Want to get a peek at the high quality Neanderthal genome? Neandertal sequences aligned to the human genome are available as BAM files here at http://cdna.eva.mpg.de/neandertal/altai/bam/.