Sharing of Very Short IBD Segments between Humans, Neandertals, and Denisovans

We analyze the sharing of very short identity by descent (IBD) segments between humans, Neandertals, and Denisovans to gain new insights into their demographic history. Short IBD segments convey information about events far back in time because the shorter IBD segments are, the older they are assumed to be. The identification of short IBD segments becomes possible through next generation sequencing (NGS), which offers high variant density and reports variants of all frequencies. However, only recently HapFABIA has been proposed as the first method for detecting very short IBD segments in NGS data. HapFABIA utilizes rare variants to identify IBD segments with a low false discovery rate. We applied HapFABIA to the 1000 Genomes Project whole genome sequencing data to identify IBD segments that are shared within and between populations. Many IBD segments have to be old since they are shared with Neandertals or Denisovans, which explains their shorter lengths compared to segments that are not shared with these ancient genomes. The Denisova genome most prominently matches IBD segments that are shared by Asians. Many of these segments were found exclusively in Asians and they are longer than segments shared between other continental populations and the Denisova genome. Therefore, we could confirm an introgression from Deniosvans into ancestors of Asians after their migration out of Africa. While Neandertalmatching IBD segments are most often shared by Asians, Europeans share a considerably higher percentage of IBD segments with Neandertals compared to other populations, too. Again, many of these Neandertal-matching IBD segments are found exclusively in Asians, whereas Neandertalmatching IBD segments that are shared by Europeans are often found in other populations, too. Neandertal-matching IBD segments that are shared by Asians or Europeans are longer than those observed in Africans. These IBD segments hint at a gene flow from Neandertals into ancestors of Asians and Europeans after they left Africa. Interestingly, many Neandertaland/or Denisovamatching IBD segments are predominantly observed in Africans — some of them even exclusively. IBD segments shared between Africans and Neandertals or Denisovans are strikingly short, therefore we assume that they are very old. Consequently, we conclude that DNA regions from ancestors of humans, Neandertals, and Denisovans have survived in Africans. As expected, IBD segments on chromosome X are on average longer than IBD segments on the autosomes. Neandertal-matching IBD segments on chromosome X confirm gene flow from Neandertals into ancestors of Asians and Europeans outside Africa that was already found on the autosomes. Interestingly, there is hardly any signal of Denisova introgression on the X chromosome. . CC-BY 4.0 International license not peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was . http://dx.doi.org/10.1101/003988 doi: bioRxiv preprint first posted online Apr. 7, 2014;