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Volume 590 Issue 7845, 11 February 2021

Genome revolution

Twenty years ago, the Human Genome Project published its first draft sequence of the entire human genome. A sizeable collection of papers, it filled much of the 15 February 2001 issue of Nature, and represented the culmination of some 15 years of work. But it was only the beginning. Since then researchers have plunged eagerly into the ‘post-genomic’ era, and this week, Nature takes stock of how the draft sequence has helped to reshape biological and medical research as well as the challenges of data collection, curation and access faced by today’s projects. The cover image offers a visual representation of how research into human genes has developed. The human chromosomes are represented by concentric rings and the various peaks represent the relative number of publications referencing each gene on the chromosomes before (above the ring) and after (below) the draft sequence’s publication.

Cover image: Alice Grishchenko, Csaba Both, Alexander Gates, Deisy Gys, Manolis Kellis and Albert-László Barabási.

This Week

News in Focus



This Week

News in Focus

Books & Arts



    News & Views

  • News & Views |

    Insulin is produced by pancreatic β-cells. The identification of a regulator of insulin signalling in these cells cements the long-standing idea that this pathway has a key role in β-cell biology.

    • Rohit N. Kulkarni
  • News & Views |

    Newly discovered fossil evidence has led to a re-evaluation of one of the fundamental transitions in mammalian evolution: the transformation of bones of the lower jaw into those of the middle ear.

    • Simone Hoffmann
  • News & Views |

    Hypothetical particles called axions could constitute dark matter — the unseen component of the Universe. An experiment shows how quantum-manipulation technology can improve the sensitivity of axion detectors.

    • Igor G. Irastorza
  • Reviews

  • Review Article |

    A Review describes the three key phases that define the origins of modern human ancestry, and highlights the importance of analysing both palaeoanthropological and genomic records to further improve our understanding of our evolutionary history.

    • Anders Bergström
    • , Chris Stringer
    •  & Pontus Skoglund
  • Articles

  • Article |

    A quantum enhanced search for dark matter that uses vacuum squeezing to overcome the quantum noise limit finds no evidence of dark matter axions in a well motivated mass range.

    • K. M. Backes
    • , D. A. Palken
    •  & H. Wang
  • Article |

    A compact, high-performance silicon photonics-based light detection and ranging system for three-dimensional imaging is developed that should be amenable to low-cost mass manufacturing

    • Christopher Rogers
    • , Alexander Y. Piggott
    •  & Remus Nicolaescu
  • Article |

    Bulk ultrafine-grained steel is prepared by an approach that involves the rapid production of coherent, disordered nanoprecipitates, which restrict grain growth but do not interfere with twinning or dislocation motion, resulting in high strength and ductility.

    • Junheng Gao
    • , Suihe Jiang
    •  & W. Mark Rainforth
  • Article |

    Dispersion of colloidal disks in a nematic liquid crystal reveals several low-symmetry phases, including monoclinic colloidal nematic order, with interchange between them achieved through variations in temperature, concentration and surface charge.

    • Haridas Mundoor
    • , Jin-Sheng Wu
    •  & Ivan I. Smalyukh
  • Article |

    Frank–Kasper phases are observed in small organic molecules from the crystallization of fampridine hydrochloride into two distinct structures, indicating that complex self-assembled structures can arise from simple organic salts.

    • Riccardo Montis
    • , Luca Fusaro
    •  & A. David Rae
  • Article |

    A fossil of the Middle Jurassic haramiyidan Vilevolodon diplomylos with a well-preserved malleus, incus and ectotympanic sheds light on the evolutionary transition from a dual to a single function for the ossicles in mammals.

    • Junyou Wang
    • , John R. Wible
    •  & Shundong Bi
  • Article | | Open Access

    A chromosome-quality genome of the lungfish Neoceratodus fosteri sheds light on the development of obligate air-breathing and the gain of limb-like gene expression in lobed fins, providing insights into the water-to-land transition in vertebrate evolution.

    • Axel Meyer
    • , Siegfried Schloissnig
    •  & Manfred Schartl


  • Article | | Open Access

    The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

    • Daniel Taliun
    • , Daniel N. Harris
    •  & Gonçalo R. Abecasis
  • Article |

    Tryptophan depletion in melanoma cells after prolonged treatment with interferon-γ (IFNγ) results in ribosomal frameshifting and the production of aberrant peptides that can be presented to T cells and induce an immune response.

    • Osnat Bartok
    • , Abhijeet Pataskar
    •  & Reuven Agami
  • Article |

    Long-distance V(D)J recombination is facilitated by contraction of the Igh locus and linear RAG scanning along chromatin, both driven by cohesin-mediated loop extrusion, which allows recombination of widely separated gene segments to occur.

    • Hai-Qiang Dai
    • , Hongli Hu
    •  & Frederick W. Alt
  • Article |

    Multiplexed imaging of 3,660 chromosomal loci in individual mouse embryonic stem cells by DNA seqFISH+ with immunofluorescence of 17 chromatin marks and subnuclear structures reveals invariant organization of loci within individual cells, and heterogeneous and long-lived distinct combinatorial chromatin states in cellular subpopulations.

    • Yodai Takei
    • , Jina Yun
    •  & Long Cai

Amendments & Corrections

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