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Volume 581 Issue 7809, 28 May 2020

Human resource

In this week’s issue, four papers provide in-depth insights gleaned from the Genome Aggregation Database (gnomAD). A successor to 2016’s ExAC database, which held the exomes of 60,706 individuals, gnomAD aggregates 125,748 exomes and 15,708 whole-genome sequences. This increase in size and scope has allowed the gnomAD Consortium to catalogue not only single nucleotide variants between individuals but also more complex structural variants, made up of 50 or more nucleotides. In the main paper, Konrad Karczewski and colleagues review the database and explore variants that can inactivate protein-coding genes. In a second paper, Beryl Cummings and co-workers show that RNA expression data can be used to guide variant interpretation. In another paper, Eric Minikel and colleagues probe how the gnomAD data might help to identify genetic targets for drugs. And in the fourth paper, Ryan Collins and co-workers set out a catalogue of 433,371 structural variants and analyse them for their influence on physiological traits.

Cover image: Sigrid Knemeyer and Hang Yu Lin, SciStories LLC.

This Week

News in Focus

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Research

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  • Articles

  • Article | | Open Access

    Measurements of low-energy electronic states of radium monofluoride validate predictions of the use of this short-lived radioactive molecule in exploring fundamental physics and provide evidence of its suitability for laser cooling.

    • R. F. Garcia Ruiz
    • R. Berger
    • X. F. Yang
  • Article |

    The synthesis of tertiary amines is achieved through a carbonyl alkylative amination reaction facilitated by visible light, in which an aldehyde and an amine condense to form an iminium ion that subsequently reacts with alkyl radical.

    • Roopender Kumar
    • Nils J. Flodén
    • Matthew J. Gaunt
  • The Genome Aggregation Database (gnomAD)

  • Article | | Open Access

    A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.

    • Konrad J. Karczewski
    • Laurent C. Francioli
    • Daniel G. MacArthur

    Special:

  • Article | | Open Access

    A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.

    • Ryan L. Collins
    • Harrison Brand
    • Michael E. Talkowski

    Special:

  • Analysis | | Open Access

    Analysis of predicted loss-of-function variants from 125,748 human exomes and 15,708 whole genomes in the Genome Aggregation Database (gnomAD) provides a roadmap for human ‘knockout’ studies and a guide for future research into disease biology and drug-target selection.

    • Eric Vallabh Minikel
    • Konrad J. Karczewski
    • Daniel G. MacArthur

    Special:

  • Articles

  • Article |

    Detailed virological analysis of nine cases of coronavirus disease 2019 (COVID-19) provides proof of active replication of the SARS-CoV-2 virus in tissues of the upper respiratory tract.

    • Roman Wölfel
    • Victor M. Corman
    • Clemens Wendtner
  • Article |

    Experimental analysis of reconstructed ancestral globins reveals that haemoglobin’s complex tetrameric structure and oxygen-binding functions evolved by simple genetic and biophysical mechanisms.

    • Arvind S. Pillai
    • Shane A. Chandler
    • Joseph W. Thornton

Nature Index

  • Nature Index |

    2020 South Korea

    A concerted government push to make South Korea an innovation leader, backed by strong investment and systemic reform, has brought rapid and long-lasting results.

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