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This Week in Nature: Oct 6, 2016

In this week's Nature, a team led by researchers from Seoul National University present the genome of a Korean individual, providing a population-specific reference genome for a group traditionally underrepresented in sequencing studies. By combining newly available sequencing and assembly technologies such as single-molecule, real-time sequencing, the investigators were able to generate a high-resolution reference genome with few gaps. GenomeWeb has more on this here.

Also in Nature, a Harvard Medical School-led group presents genome-wide DNA data from four individuals who lived in the South Pacific islands of Vanuatu and Tonga about 2,300 years to 3,100 years ago. People reached this region using the first boats capable of long-distance travel around 3,000 years ago, marking the beginning of the last major dispersal of humans to unpopulated lands. By comparing the data from the ancient individuals to data from present-day individuals from East Asia and Oceania, the investigators gained insights into where the first settlers to the islands came from, as well as clues about their relationship to the Papuan people of New Guinea.

And in Nature Biotechnology, a research team led by Broad Institute scientists describes a new technique for the genome-wide, high-resolution mapping of activating and repressive nucleotides in transcriptional regulatory regions. The method — called systematic high-resolution activation and repression profiling with reporter tiling using MPRA, or Sharpr-MPRA — combines dense tiling of overlapping massively parallel reporter assay constructs with a probabilistic graphical model to recognize functional regulatory nucleotides, as well as to distinguish activating and repressive nucleotides based on their inferred contribution to reporter gene expression. The team demonstrated Sharpr-MPRA's ability to test 4.6 million nucleotides across 15,000 putative regulatory regions tiled at five-nucleotide resolution in two human cell types.