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Volume 23 Issue 4, April 2022

Inspired by the Review on p199

Cover design: Patrick Morgan

Research Highlights

  • Two new studies of mutations linked to distinct neurological conditions — autism spectrum disorders (ASD) and tuberous sclerosis complex (TSC) — use human brain organoids to identify mutation-driven alterations to cell lineage trajectories during early brain development.

    • Darren J. Burgess
    Research Highlight


  • A study in Nature reconstructs haematopoietic phylogenies and tracks clonal evolutionary dynamics in 12 patients with adult-onset myeloproliferative neoplasms, revealing that initial driver mutations of these cancers often occur during childhood, including in utero.

    • Linda Koch
    Research Highlight
  • In this Journal Club, Itai Yanai discusses key quantitative work characterizing the occurrence and fates of gene duplicates across various species.

    • Itai Yanai
    Journal Club
  • Two recent studies published in Nature Biotechnology describe the engineering of circularized guide RNAs, which allow for programmable RNA base editing in vivo, with vastly improved editing efficiency and durability.

    • Michael Attwaters
    Research Highlight
  • Kong et al. describe 6mASCOPE, a new approach for both quantifying N6-methyldeoxyadenine (6mA) and discriminating its genomic source. Results indicate that eukaryotic genomes contain low levels of 6mA, with bacterial genomes accounting for the majority of 6mA in some samples.

    • Dorothy Clyde
    In Brief
  • Using whole-genome sequencing and haplotype tracking, Viluma et al. show that the small, highly inbred Scandinavian wolf population has lost substantial genetic diversity over a 30-year period. Their findings have important implications for the management and conservation of endangered species.

    • Dorothy Clyde
    In Brief
  • Flotte et al. describe the first test of adeno-associated virus-based gene therapy for Tay-Sachs disease in humans. Delivery to the thalamus and cerebrospinal fluid was found to be broadly safe, providing a firm basis for future clinical trials.

    • Dorothy Clyde
    In Brief
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  • The authors review the field of mammalian mitochondrial genome engineering, culminating in the recent development of mitochondrially targeted programmable nucleases and base editors. They describe research that led to the development of animal models of mitochondrial disease, as well as the potential for translating these approaches to the clinic.

    • Pedro Silva-Pinheiro
    • Michal Minczuk
    Review Article
  • Synthetic RNA devices integrate sensing, processing and actuation of signals into defined, programmable functions to control cell behaviour. This Review discusses the emerging applications of RNA devices in biomedical research and biomanufacturing, as well as progress in creating new ligand sensors and new mechanisms of action with engineered RNAs.

    • Peter B. Dykstra
    • Matias Kaplan
    • Christina D. Smolke
    Review Article
  • Loci that encode long non-coding RNAs (lncRNAs) can be complex and function through multiple modalities. The authors provide a framework for elucidating the physiological roles of lncRNAs using genetically engineered mouse models, including whole-gene deletion, transcription termination, reporters and transgene rescue strategies.

    • Daniel Andergassen
    • John L. Rinn
    Review Article
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  • This Perspective highlights privacy issues related to the sharing of functional genomics data, including genotype and phenotype information leakage from different functional genomics data types and their summarization steps. The authors also review the techniques that will enable broad sharing and analysis while maintaining privacy.

    • Gamze Gürsoy
    • Tianxiao Li
    • Mark B. Gerstein
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Amendments & Corrections

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