Table of Contents

Volume 536 Number 7616 pp249-368

18 August 2016

About the cover

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

This Week



World View


Seven Days


    News in Focus




    Books and Arts

    • Ethics: Taming our technologies

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

      • Review of The Ethics of Invention: Technology and the Human Future
        Sheila Jasanoff
    • Q&A: Brenda Keneghan: The polymer conservator

      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.

    • Books in brief

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



    • Work abroad: Visa to visit

      Researchers working outside their home country should be careful to brush up on local customs.

      • Barbra Rodriguez

    naturejobs job listings and advertising features



    Technology Feature

    • Let the structural symphony begin

      Structural biologists are at last living the dream of visualizing macromolecules to uncover their function. But it means integrating different technologies, and that's no easy feat.

      • Stephen Ornes



    • Analysis of protein-coding genetic variation in 60,706 humansOpen

      • Monkol Lek
      • Konrad J. Karczewski
      • Eric V. Minikel
      • Kaitlin E. Samocha
      • Eric Banks
      • Timothy Fennell
      • Anne H. O’Donnell-Luria
      • James S. Ware
      • Andrew J. Hill
      • Beryl B. Cummings
      • Taru Tukiainen
      • Daniel P. Birnbaum
      • Jack A. Kosmicki
      • Laramie E. Duncan
      • Karol Estrada
      • Fengmei Zhao
      • James Zou
      • Emma Pierce-Hoffman
      • Joanne Berghout
      • David N. Cooper
      • Nicole Deflaux
      • Mark DePristo
      • Ron Do
      • Jason Flannick
      • Menachem Fromer
      • Laura Gauthier
      • Jackie Goldstein
      • Namrata Gupta
      • Daniel Howrigan
      • Adam Kiezun
      • Mitja I. Kurki
      • Ami Levy Moonshine
      • Pradeep Natarajan
      • Lorena Orozco
      • Gina M. Peloso
      • Ryan Poplin
      • Manuel A. Rivas
      • Valentin Ruano-Rubio
      • Samuel A. Rose
      • Douglas M. Ruderfer
      • Khalid Shakir
      • Peter D. Stenson
      • Christine Stevens
      • Brett P. Thomas
      • Grace Tiao
      • Maria T. Tusie-Luna
      • Ben Weisburd
      • Hong-Hee Won
      • Dongmei Yu
      • David M. Altshuler
      • Diego Ardissino
      • Michael Boehnke
      • John Danesh
      • Stacey Donnelly
      • Roberto Elosua
      • Jose C. Florez
      • Stacey B. Gabriel
      • Gad Getz
      • Stephen J. Glatt
      • Christina M. Hultman
      • Sekar Kathiresan
      • Markku Laakso
      • Steven McCarroll
      • Mark I. McCarthy
      • Dermot McGovern
      • Ruth McPherson
      • Benjamin M. Neale
      • Aarno Palotie
      • Shaun M. Purcell
      • Danish Saleheen
      • Jeremiah M. Scharf
      • Pamela Sklar
      • Patrick F. Sullivan
      • Jaakko Tuomilehto
      • Ming T. Tsuang
      • Hugh C. Watkins
      • James G. Wilson
      • Mark J. Daly
      • Daniel G. MacArthur
      • Exome Aggregation Consortium

      Exome sequencing data from 60,706 people of diverse geographic ancestry is presented, providing insight into genetic variation across populations, and illuminating the relationship between DNA variants and human disease.

      See also
    • Defining the clonal dynamics leading to mouse skin tumour initiation

      • Adriana Sánchez-Danés
      • Edouard Hannezo
      • Jean-Christophe Larsimont
      • Mélanie Liagre
      • Khalil Kass Youssef
      • Benjamin D. Simons
      • Cédric Blanpain

      Skin stem cells, but not their progenitors, are able to form tumours owing to the ability of oncogene-targeted stem cells to increase symmetric self-renewing division and a higher p53-dependent resistance to apoptosis.


    • High-efficiency two-dimensional Ruddlesden–Popper perovskite solar cells

      • Hsinhan Tsai
      • Wanyi Nie
      • Jean-Christophe Blancon
      • Constantinos C. Stoumpos
      • Reza Asadpour
      • Boris Harutyunyan
      • Amanda J. Neukirch
      • Rafael Verduzco
      • Jared J. Crochet
      • Sergei Tretiak
      • Laurent Pedesseau
      • Jacky Even
      • Muhammad A. Alam
      • Gautam Gupta
      • Jun Lou
      • Pulickel M. Ajayan
      • Michael J. Bedzyk
      • Mercouri G. Kanatzidis
      • Aditya D. Mohite

      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.

    • The active site of low-temperature methane hydroxylation in iron-containing zeolites

      • Benjamin E. R. Snyder
      • Pieter Vanelderen
      • Max L. Bols
      • Simon D. Hallaert
      • Lars H. Böttger
      • Liviu Ungur
      • Kristine Pierloot
      • Robert A. Schoonheydt
      • Bert F. Sels
      • Edward I. Solomon

      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.

      See also
    • An early geodynamo driven by exsolution of mantle components from Earth’s core

      • James Badro
      • Julien Siebert
      • Francis Nimmo

      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.

    • A human neurodevelopmental model for Williams syndrome

      • Thanathom Chailangkarn
      • Cleber A. Trujillo
      • Beatriz C. Freitas
      • Branka Hrvoj-Mihic
      • Roberto H. Herai
      • Diana X. Yu
      • Timothy T. Brown
      • Maria C. Marchetto
      • Cedric Bardy
      • Lauren McHenry
      • Lisa Stefanacci
      • Anna Järvinen
      • Yvonne M. Searcy
      • Michelle DeWitt
      • Wenny Wong
      • Philip Lai
      • M. Colin Ard
      • Kari L. Hanson
      • Sarah Romero
      • Bob Jacobs
      • Anders M. Dale
      • Li Dai
      • Julie R. Korenberg
      • Fred H. Gage
      • Ursula Bellugi
      • Eric Halgren
      • Katerina Semendeferi
      • Alysson R. Muotri

      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.

    • Structure of mammalian respiratory complex I

      • Jiapeng Zhu
      • Kutti R. Vinothkumar
      • Judy Hirst

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