Pathogenesis articles within Nature Reviews Genetics

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  • Review Article |

    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

  • Journal Club |

    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

  • Review Article |

    Non-B DNA secondary structures, such as G quadruplexes, H-DNA or Z-DNA, have key roles in genetic instability and disease aetiology. The authors review the impact of non-B DNA on transcription, replication, recombination and DNA damage and repair, the mechanisms of non-B DNA-induced mutagenesis and the role of non-B DNA sequences in human disease.

    • Guliang Wang
    •  & Karen M. Vasquez

  • Review Article |

    Silver, Bick and Savona discuss our latest understanding of clonal haematopoiesis (CH), which is an expansion of blood cell populations with shared somatic mutations. They focus on human germline risk variants and on how these are linked to different forms of CH and their associated disease pathologies.

    • Alexander J. Silver
    • , Alexander G. Bick
    •  & Michael R. Savona

  • Review Article |

    Profiling tumours by next-generation sequencing can improve diagnostic accuracy, assess for heritable cancer risk and guide treatment selection. The authors review efforts to enhance the clinical utility of cancer genomic profiling through integrative analyses of tumour and germline variants, as well as by characterizing allelic context and mutational signatures that influence therapy response.

    • Debyani Chakravarty
    •  & David B. Solit

  • Research Highlight |

    Two new papers in Nature Biotechnology report methods for targeted sequencing of complex DNA samples, achieved in real time during nanopore sequencing runs.

    • Darren J. Burgess

  • In Brief |

    Jin et al. describe a barcoding approach for analysing metastasis, which they used to generate an organ-specific metastasis map for 500 cancer cell lines.

    • Dorothy Clyde

  • Research Highlight |

    Two new reports in Cell use genome-wide CRISPR screens to uncover host determinants of coronavirus infection, identifying potential leads for antiviral therapeutics.

    • Darren J. Burgess

  • Research Highlight |

    The GTEx consortium reports results from its third and final phase in several new papers. They provide unprecedented detail of human gene expression regulation across tissues.

    • Darren J. Burgess

  • Research Highlight |

    A new study in Science uses chromatin accessibility profiles to reveal gene regulatory alterations associated with genetic variants in neuropsychiatric disease.

    • Darren J. Burgess

  • Research Highlight |

    The BabySeq project, a pilot randomized clinical trial exploring the value of routine genomic sequencing of neonates compared with standard newborn screening, now reports initial results in the American Journal of Human Genetics.

    • Linda Koch

  • Review Article |

    Rett syndrome is a neurological disorder associated with mutations in the X-linked geneMECP2(methyl-CpG-binding protein 2). This Review details emerging insights into the link between the functions of MeCP2 and the pathogenesis of Rett syndrome.

    • Matthew J. Lyst
    •  & Adrian Bird

  • Opinion |

    In the past few years, there have been rapid advances in the identification of the genetic components of autism spectrum disorders, particularly in the form ofde novomutations. Here, the authors review these developments in light of genetic models for autism spectrum disorders.

    • Michael Ronemus
    • , Ivan Iossifov
    •  & Michael Wigler

  • Review Article |

    Retinal degeneration due to photoreceptor cell death is a major cause of visual impairment in adults. Over one hundred genes have been implicated, so how does this genetic heterogeneity converge on a shared phenotype? The emerging insights have implications for therapy.

    • Alan F. Wright
    • , Christina F. Chakarova
    •  & Shomi S. Bhattacharya

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