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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    • Population-scale testing is an essential component of responses to the COVID-19 pandemic and is likely to become increasingly important in public health. Here, Mercer and Salit describe the roles of testing during the COVID-19 pandemic, including in genomic surveillance, contact tracing and environmental testing.

      • Tim R. Mercer
      • Marc Salit
      Review Article
    • In this Perspective article, Oh and Petronis discuss emerging evidence of time-dependent patterns of DNA modification and describe how incorporating this ‘chrono-epigenetic’ perspective could add value and interpretability in human disease studies.

      • Edward Saehong Oh
      • Art Petronis
    • 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
  • During development, cell competition causes apoptosis of cells with abnormal ribosomal protein profiles. Ji et al. show that this same mechanism also deletes aneuploid cells and that the deleted cell populations mainly have altered ribosomal protein gene dosages.

    • Caroline Barranco
    In Brief
  • Schep et al. show that non-homologous end joining is strongly favoured in euchromatin, whereas single-stranded template repair is moderately preferred in heterochromatin. Importantly, heterochromatin features that promote microhomology-mediated end joining also decrease Cas9 efficiency.

    • Caroline Barranco
    In Brief
  • Human telomerase reverse transcriptase (hTERT) activity is tightly controlled. This report shows that hTERT is primarily regulated by alternative splicing; skipping of exon 2 triggers decay of TERT mRNA in differentiated cells and its retention promotes telomere maintenance in pluripotent cells.

    • Caroline Barranco
    In Brief
  • Deborah Charlesworth reflects on a 1970 publication by Haskins et al., a study on guppy Y chromosomes that beautifully demonstrates the use of classical genetics and remains intriguing to this day.

    • Deborah Charlesworth
    Journal Club
  • A new study in Science reports the extraction and analysis of ancient hominid nuclear DNA from Paleolithic sediments. This advance paves the way to a fuller picture of human evolution by bypassing the dependency on rare skeletal remains.

    • Dorothy Clyde
    Research Highlight
  • Cisca Wijmenga reflects on a seminal publication by Houwen et al. that set the stage for genome-wide association studies and inspired her to dedicate her lab to complex trait genetics.

    • Cisca Wijmenga
    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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