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Volume 536 Issue 7616, 18 August 2016

As part of the Exome Aggregation Consortium (ExAC) project, Daniel MacArthur and colleagues report on the generation and analysis of high-quality exome sequencing data from 60,706 individuals of diverse ancestry. This provides the most comprehensive catalogue of human protein-coding genetic variation to date, yielding unprecedented resolution for the analysis of very rare variants across multiple human populations. The catalogue is freely accessible and provides a critical reference panel for the clinical interpretation of genetic variants and the discovery of disease-related genes. Cover: Kelly Krause/Nature


World View

Research Highlights

Seven Days


News Feature


  • Comment |

    John C. Warner and Jennifer K. Ludwig propose three approaches that would help inventors to produce safer chemicals and products.

    • John C. Warner
    • Jennifer K. Ludwig


Books & Arts

  • Books & Arts |

    Steven Aftergood weighs up a study that gauges the gap between oversight and the onward rush of innovation.

    • Steven Aftergood
  • Books & Arts |

    For many, plastic is a dirty word — a pollutant that can't degrade soon enough. But for polymer scientist Brenda Keneghan, it's a precious material that looms large in design history. A conservator at the Victoria and Albert Museum (V&A) in London, Keneghan spends her days saving plastic items from furniture to toys from the ravages of time. Here she talks about the war against the warping, yellowing, crumbling and stickiness that plague polymers.

    • Elizabeth Gibney
  • Books & Arts |

    Barbara Kiser reviews five of the week's best science picks.

    • Barbara Kiser


News & Views

  • News & Views |

    In the 1950s, the discovery of a class of 'living' polymerization reaction revolutionized the field of polymer science by providing a way of controlling the molecular-weight distribution of polymers. The effects reverberate to this day.

    • Gary Patterson
  • News & Views |

    Inactivation of a group of sleep-promoting neurons through dopamine signalling can cause acute or chronic wakefulness in flies, depending on changes in three different potassium-channel proteins. See Letter p.333

    • Stephane Dissel
    • Paul J. Shaw
  • News & Views |

    The identification of the active site of an iron-containing catalyst raises hopes of designing practically useful catalysts for the room-temperature conversion of methane to methanol, a potential fuel for vehicles. See Letter p.317

    • Jay A. Labinger
  • News & Views |

    Several hypotheses have been formulated to explain how cells make the first lineage decision during mammalian embryonic development. An overarching mechanism now unifies these disparate models. See Letter p.344

    • Berenika Plusa
    • Anna-Katerina Hadjantonakis
  • News & Views |

    'Overdoped' high-temperature superconductors, which have a high density of charge carriers, were thought to be well understood. An experiment challenges what we know about quantum physics in such systems. See Letter p.309

    • Jan Zaanen



  • Letter |

    Thin-film solar cells were fabricated using layered two-dimensional perovskites with near-single-crystalline out-of-plane alignment, which facilitates efficient charge transport leading to greatly improved power conversion efficiency with technologically relevant stability to light exposure, humidity and heat stress.

    • Hsinhan Tsai
    • Wanyi Nie
    • Aditya D. Mohite
  • Letter |

    Iron-containing zeolites have an exceptional ability to convert methane into methanol, but their active site have been hard to study; now, magnetic circular dichroism has been used to explore the reactive species, providing a technique that should be generally applicable, and revealing the value of constraining active sites within a lattice to improve catalyst functionality.

    • Benjamin E. R. Snyder
    • Pieter Vanelderen
    • Edward I. Solomon
  • Letter |

    Experiments show that magnesium oxide can dissolve in core-forming metallic melts at very high temperatures; core formation models suggest that a giant impact during Earth’s accretion could have contributed large amounts of magnesium to the early core, the subsequent exsolution of which would have generated enough gravitational energy to power an early geodynamo and produce an ancient magnetic field.

    • James Badro
    • Julien Siebert
    • Francis Nimmo
  • Letter |

    Sleep-promoting neurons in Drosophila are shown to switch between electrical activity and silence as a function of sleep need; the switch is operated by dopamine and involves the antagonistic regulation of two potassium channels.

    • Diogo Pimentel
    • Jeffrey M. Donlea
    • Gero Miesenböck
  • Letter |

    A human neurodevelopmental model fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain.

    • Thanathom Chailangkarn
    • Cleber A. Trujillo
    • Alysson R. Muotri
  • Letter |

    Electron cryomicroscopy structures are provided for all core and supernumerary protein subunits of mammalian complex I, a 45-subunit enzyme that powers eukaryotic respiration.

    • Jiapeng Zhu
    • Kutti R. Vinothkumar
    • Judy Hirst


Technology Feature



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