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  • Two studies have revealed that the characteristic distribution of N6-methyladenosine (m6A) — an RNA modification known to be functionally important for mRNA metabolism among other processes — in mRNA is shaped by the exon junction complex during splicing.

    • Dorothy Clyde
    Research Highlight
  • Environmental pollutants have been shown to disrupt molecular mechanisms underlying common complex diseases. The authors review the interplay of environmental stressors with the human genome and epigenome as well as other molecular processes, such as production of extracellular vesicles, epitranscriptomic changes and mitochondrial changes, through which the environment can exert its effects.

    • Haotian Wu
    • Christina M. Eckhardt
    • Andrea A. Baccarelli
    Review Article
  • In this Review, Munir Pirmohamed provides an overview of the current state of the pharmacogenomics field, using examples of clinically relevant drug–gene associations, before outlining the steps needed for implementation of pharmacogenomics into clinical practice. The role of pharmacogenomics in drug discovery and development is also considered.

    • Munir Pirmohamed
    Review Article
  • Two new studies in Nature Biotechnology describe cellular recording systems that incorporate time-resolved optical signals into self-assembling protein filaments.

    • Darren J. Burgess
    Research Highlight
  • In this Journal club, Meritxell Huch recalls a dogma postulated by Hayflick in 1961, that the capacity for propagating primary epithelial cells with normal ploidy is limited — a theory that persisted until the advent of organoid cultures.

    • Meritxell Huch
    Journal Club
  • The ability to map DNA and RNA modifications has improved our understanding of these marks, but in some cases inconsistent results have been problematic. Here, Kong et al. discuss how to recognize and resolve issues associated with commonly used sequencing-based approaches to minimize mapping errors.

    • Yimeng Kong
    • Edward A. Mead
    • Gang Fang
    Review Article
  • A study in Nature reports comprehensive, genome-wide mapping of the human methylome that provides mechanistic insights into gene regulation and offers great potential for analysis of cell-free DNA.

    • Kirsty Minton
    Research Highlight
  • Sérgio Pena discusses a 2019 study by Gruhn et al., which showed that meiotic chromosome segregation errors originating in oocytes determine the curve of female fertility in humans.

    • Sergio D. J. Pena
    Journal Club
  • Selene Fernandez-Valverde recalls a seminal publication by Jacob and Monod to showcase how thoughtful reasoning and extrapolation of limited observations can provide meaningful insights into complex systems.

    • Selene L. Fernandez-Valverde
    Journal Club
  • Macroautophagy and microautophagy involve characteristic membrane dynamics regulated by autophagy-related proteins to degrade cytoplasmic material in lysosomes. In this Review, the authors summarize recent progress in elucidating these highly conserved processes, the pathological relevance of autophagy-related genes in Mendelian and complex diseases, and the evolution of the autophagy pathway.

    • Hayashi Yamamoto
    • Sidi Zhang
    • Noboru Mizushima
    Review Article
  • The vast combinatorial sequence space of RNAs has prohibited quantitative mapping from nucleotide sequence to structure and function. New biochemical methods in vitro, which carry out measurements on hundreds of thousands of molecules at the same time, are now beginning to solve this issue.

    • Emil Marklund
    • Yuxi Ke
    • William J. Greenleaf
    Review Article
  • In this Review, the authors describe how advances in comparative primate genomics — complemented by multi-layered omic resources and primate cell systems — are providing insights into the evolution of primates and the genetic underpinnings of key traits of developmental and biomedical importance.

    • David Juan
    • Gabriel Santpere
    • Tomas Marques-Bonet
    Review Article
  • Two new studies in Science characterize a CRISPR-associated nuclease–protease system that can be leveraged as a programmable protease-based RNA sensor.

    • Darren J. Burgess
    Research Highlight
  • Alternative splicing of pre-mRNAs is key for cellular function and underpins the aetiology of numerous diseases. Here, we review major advances in understanding the structures and functions of the splicing machinery and its regulation, and in harnessing this knowledge for the design of novel therapies.

    • Malgorzata Ewa Rogalska
    • Claudia Vivori
    • Juan Valcárcel
    Review Article
  • A comparative genomics study published in Nature Communications provides new insight into the genomic changes underlying the convergent evolution of sociality in spiders.

    • Dorothy Clyde
    Research Highlight
  • A study in Nature reports the identification of new germline variants associated with particular subtypes of clonal haematopoiesis of indeterminate potential (CHIP) and their links to different health outcomes.

    • Kirsty Minton
    Research Highlight
  • In this Review, the authors discuss our latest understanding of the spatial aspects of cancer evolution, including the roles of cancer subclonal structure, tissue architecture, and interactions between cancer cells and diverse cell types of the microenvironment at local and distant sites.

    • Zaira Seferbekova
    • Artem Lomakin
    • Moritz Gerstung
    Review Article
  • In this Review, Berger and Yu discuss how the sheer amounts of sequence data create bottlenecks in downstream analytical pipelines that must be overcome by new analysis strategies, each with their own trade-offs for properties such as speed, accuracy and applicability.

    • Bonnie Berger
    • Yun William Yu
    Review Article
  • A new study in Nature Methods describes a computational method named UTAG (unsupervised discovery of tissue architecture with graphs) that aims to identify and quantify higher-level tissue domains from biological images without previous knowledge.

    • Linda Koch
    Research Highlight