Identifying Neandertal DNA in modern human genomes

In the most current issue of Science authors Vernot and Akey identified Neandertal DNA in modern humans using whole-genome sequences from 379 European and 286 East Asian individuals. They used a summary statistic to identify candidate genes that was sensitive to the signatures of introgression. Their results yielded more than 15 gigabases of introgressed sequence that spans around 20% of the Neandertal genome. Their results also indicate that Neandertals were a source of adaptive variation for loci involved in skin pigmentation. This fossil-free paradigm of sequencing archaic genomes holds promise for the study of hominin evolution and identifying uniquely human genotypes and phenotypes.