Balloons flying in clusters of matching colours; reminiscent of spots in spatial omics

Spatial architecture of development and disease

  • Enikő Lázár
  • Joakim Lundeberg
Review Article

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    Share your Tools of the Trade

    Are you an early-career researcher who helped develop a cool tool or method? Would you like others to learn about it? Let us know! Our Tools of the Trade articles showcase new computational or technological advancements in genetics and genomics. Email [email protected] with a link to the paper on your method/tool and a few words on the gap that it fills.

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    This Nature Reviews Genetics collection brings together Reviews written by key opinion leaders on single-cell omics methods and applications.

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    This online collection on RNA splicing by Nature Reviews Genetics and Nature Reviews Molecular Cell Biology showcases novel biological insights facilitated by recent technological and computational advances.

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    • Morris discusses how single-cell genomics and computational tools expose failure points in reprogramming and guide protocols that improve the fidelity, maturity and purity of engineered cells, advancing their use in regenerative medicine and disease modelling.

      • Samantha A. Morris
      Review Article
    • Recent advances in forensic genetics have improved the range, precision and reliability of forensic information obtainable from biological trace material. The author reviews how non-targeted and targeted omics approaches and methods are improving crime scene analyses being applied for the identification of perpetrators and their relatives or victims, the prediction of phenotypic traits, and the determination of trace characteristics.

      • Manfred Kayser
      Review Article
    • Spatial omics has empowered the discovery of developmental and disease-associated molecular signatures, cell states and multicellular niches, as well as the evaluation of disease heterogeneity within and across organs. The authors review spatially resolved molecular changes across diseases and discuss the potential of spatial multi-omics for clinical applications, including the recent impact of artificial intelligence.

      • Enikő Lázár
      • Joakim Lundeberg
      Review Article
    • Haplotype phasing and genotype imputation improve genomic analyses by determining which variants occur together on a chromosome and inferring unobserved varants, respectively. In this Review, Sun and Li describe how tools for haplotype phasing and genotype imputation have evolved to accommodate increasingly larger genomic datasets and new sequencing technologies.

      • Quan Sun
      • Yun Li
      Review Article
  • Gerald Mboowa reflects on the dual legacy of a 2021 study by Frangoul et al., which demonstrated safe and effective CRISPR-based editing to treat sickle-cell disease and β-thalassemia, as both a triumph of modern science and a call to action for global health.

    • Gerald Mboowa
    Journal Club
  • In this Comment, the authors overview the latest deep learning models for predicting regulatory function from genomic sequence and highlight key topics going forward, including the trade-off between specialized and general models, multitasking across cell types, and training on genetic variation and diverse species.

    • Sarthak Tiwari
    • Alireza Karbalayghareh
    • Christina S. Leslie
    Comment
  • For the 25th anniversary of Nature Reviews Genetics, we reflect on exciting progress towards decoding the regulatory genome and its mechanisms, a central goal in genetics that must be solved with interdisciplinary research to yield widespread insights into evolution, development and disease.

    Editorial
  • In this Comment, the authors outline some key next steps to advance our understanding of cis-regulatory elements at single-cell resolution, which includes harmonizing global efforts to construct a comprehensive single-cell atlas of gene regulation.

    • Yi Xiang See
    • Tim Stuart
    • Jay W. Shin
    Comment
Open books with long strands of DNA emerging out of the pages, representing the information provided by long-read sequencing.

Long-read sequencing

Long-read sequencing has transformed genetics and genomics. With this technology, genomic studies can illuminate previously inaccessible regions, such as repetitive DNA and large structural variants; transcriptomic studies can resolve full-length transcripts and complex isoforms; and epigenomic studies can gain additional information from directly sequencing the DNA or RNA molecule. Nature Reviews Genetics presents an online collection that showcases recent technological developments and the biological insights that have followed.
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