In this week's Nature, a Max Planck Institute for Evolutionary Anthropology-led team publishes the genome sequence of a 45,000-year-old modern human man from Siberia, who lived right around the time that western and eastern Eurasia populations split. The researchers report that the man carried a similar level of Neanderthal ancestry as present-day Eurasians, though he had longer genomic segments of Neanderthal ancestry. Their analysis suggests that the Neanderthal gene flow into the ancestors of this individual occurred some 7,000 years to 13,000 years before he lived. Previous estimates of interbreeding between modern humans and Neanderthal range from 37,000 years to 86,000 years ago, but the new data point to that gene flow occurring roughly between 50,000 years and 60,000 years ago. GenomeWeb Daily News has more on this 45,000-year-old human genome here.
And in Nature Genetics, Broad Institute researchers present a method for comprehensive genetic variation discovery on single human genomes. Genetic variation is typically characterized by sequencing individual genomes and comparing reads to a reference, but existing approaches often miss about 10 percent of variants, the researchers note. To address this, they developed an algorithm called DISCOVAR and showed that, when combined with current methods, data sensitivity was increased several fold, with the greatest impact in challenging regions of the human genome.