The influence of evolutionary history on human health and disease

  • Mary Lauren Benton
  • Abin Abraham
  • John A. Capra
Review Article


  • Stylized multi-coloured Circos plot

    The past two decades have witnessed extraordinary technological and computational advances in nucleic acid sequencing. This Milestone timeline provides a perspective of major genomic sequencing-related developments in the 21st century.

  • Immune cells attacking cancer cells

    The immune system is constantly on the lookout for threats but can fail to spot cancer. Now, advanced sequencing technologies are enabling scientists to investigate the unique genetics of both cancers and immune responses in individual patients. This means researchers can develop treatments that boost the immune system and help the body win its battle against cancer.

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    Finding it hard to navigate the flood of scientific literature? The Nature Reviews journals filter and highlight the most impactful research. Take a look at this animation to learn how Nature Reviews Genetics can help you stay up-to-date, or visit


    • In this Perspective, Teschendorff and Feinberg describe how single-cell analysis methods based on statistical mechanics can provide valuable insights into developmental phenomena, such as differentiation potency and lineage trajectories, as well as disruption of these processes in cancer.

      • Andrew E. Teschendorff
      • Andrew P. Feinberg
    • In this Review, Neafsey, Taylor and MacInnis discuss how population genomics approaches are currently used to study malaria parasites and mosquito vectors. They explore information that can be derived from such genomics approaches and discuss the use of relatedness-based measures of population variation to understand parasite and vector dynamics at highly resolved spatiotemporal scales.

      • Daniel E. Neafsey
      • Aimee R. Taylor
      • Bronwyn L. MacInnis
      Review Article
    • The authors review the evidence for a biological role of RNA as a form of cell–cell communication in mammals as well as proposed roles for extracellular RNAs in health and disease. Moreover, this Review emphasizes and provides guidance on the experimental rigor that is required to definitively show that extracellular RNAs are functional in recipient cells in vivo.

      • Hannah N. Gruner
      • Michael T. McManus
      Review Article
    • Stapornwongkul and Vincent review models for morphogen gradient formation. They propose that hindered diffusion, in which interactions between morphogens and extracellular binders modulate gradient shape and dynamics, could form robust morphogen gradients in a variety of tissue contexts.

      • Kristina S. Stapornwongkul
      • Jean-Paul Vincent
      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
      Review Article
  • Xia et al. highlight an unexpected horizontal gene transfer event, whereby the sweet potato whitefly has harnessed a host plant detoxification mechanism to resist its defences.

    • Ingrid Knarston
    Research Highlight
  • From the June 2021 issue onwards, Nature Reviews Genetics will publish Journal Club articles, which explore a historical scientific publication that has served as inspiration to the author.

  • Qifa Zhang describes how a 2008 publication in Nature Biotechnology on transgenic purple tomatoes inspired him to tackle food security by improving the nutrient and culinary value of black rice.

    • Qifa Zhang
    Journal Club
  • Two studies co-published in Nature Genetics describe induced pluripotent stem cell-based resources for identifying novel, disease-related genetic variants.

    • Joseph Willson
    Research Highlight
  • Two new studies in Science use lineage tracking in humans to show that among the first few embryonic cells originating from post-fertilization cell divisions, there can be substantial imbalance in their contributions to mature tissues.

    • Darren J. Burgess
    Research Highlight
  • Neil Gemmell recalls the pioneering work published in 1968 by Britten and Kohne, which ignited in him an enduring fascination as to why eukaryotic genomes contain substantial fractions of repetitive DNA.

    • Neil J. Gemmell
    Journal Club
Cancer Milestones

Cancer Milestones

The ancient physician Hippocrates described the projection of blood vessels from a collection of cells as ‘karkinos’, the Greek word for crab.

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