Review Articles

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  • In this Review, the authors describe the evolutionary conservation and divergence of the meiotic recombination machinery, focusing on proteins that are required for meiotic double-strand break formation, double-strand break repair via homologous recombination and the formation of crossover and non-crossover recombinant DNA molecules.

    • Meret Arter
    • Scott Keeney
    Review Article
  • In this Review, the authors describe our current knowledge of the role of microRNAs, long non-coding RNAs and circular RNAs in disease, with a focus on cardiovascular, neurological, infectious diseases and cancer. Further, they discuss the potential use of non-coding RNAs as disease biomarkers and as therapeutic targets.

    • Kinga Nemeth
    • Recep Bayraktar
    • George A. Calin
    Review Article
  • Chromothripsis, a complex genomic rearrangement of one (or a few) chromosomes, is frequently found in cancer genomes. The authors review methods to identify chromothripsis in cancer genomes and discuss its mechanisms of formation in micronuclei or chromosomal bridges as well as its consequences in cancer. They also highlight the link between chromothripsis and extrachromosomal DNA.

    • Ksenia Krupina
    • Alexander Goginashvili
    • Don W. Cleveland
    Review Article
  • Species and communities can respond to global climate change by genetically adapting to new environmental conditions, by shifting their range or through phenotypic plasticity. This Review summarizes approaches that apply and integrate omics tools to experimentally investigate, monitor and predict these species responses.

    • Louis Bernatchez
    • Anne-Laure Ferchaud
    • Amanda Xuereb
    Review Article
  • Antimicrobial resistance (AMR) is an important public health issue that affects human, animal and environmental sectors worldwide. The authors review the role of genomics in AMR surveillance using a One Health approach, and how genomic approaches can help mitigate the spread of AMR to improve global health.

    • Steven P. Djordjevic
    • Veronica M. Jarocki
    • Benjamin P. Howden
    Review Article
  • Ancient DNA studies over the past decade have yielded a plethora of insights into the Denisovan archaic hominin group. The authors review our understanding of Denisovan population history and their interactions with other human groups, insights from studies of Denisovan ancestry in modern humans, what we know about the Denisovan phenotype and their impact on our own evolutionary history.

    • Stéphane Peyrégne
    • Viviane Slon
    • Janet Kelso
    Review Article
  • Native nucleotide modifications regulate RNA function and metabolism, the study of which has revealed disease mechanisms, offers therapeutic potential and enables innovative clinical strategies. Chemical modifications in RNA are harnessed for clinical use in stable artificial RNAs such as mRNA vaccines and synthetic small RNA molecules.

    • Sylvain Delaunay
    • Mark Helm
    • Michaela Frye
    Review Article
  • Genomic imprinting — the monoallelic expression of genes based on their parent of origin — may have evolved due to an intragenomic conflict between maternal and paternal genomes within an individual, with differential interests regarding the level of parental caregiving. Here, the authors review the influence of genomic imprinting on parenting behaviour in mammals, with a focus on studies in mice.

    • Rosalind M. John
    • Matthew J. Higgs
    • Anthony R. Isles
    Review Article
  • In this Review, Zhang et al. discuss how recent advances in computational methods are helping to reveal the multiscale features involved in genome folding within the nucleus and how the resulting 3D genome organization relates to genome function.

    • Yang Zhang
    • Lorenzo Boninsegna
    • Jian Ma
    Review Article
  • Applying deep learning to large-scale genomic data of species or populations is providing new opportunities to understand the evolutionary forces that drive genetic diversity. This Review introduces common deep learning architectures and provides comprehensive guidelines to implement deep learning models for population genetic inference. The authors also discuss current opportunities and challenges for deep learning in population genetics.

    • Xin Huang
    • Aigerim Rymbekova
    • Martin Kuhlwilm
    Review Article
  • This Review summarizes the genetic and non-genetic factors that impact the transferability of polygenic risk scores (PRSs) across populations, highlighting the technical challenges of existing PRS construction methods for diverse ancestries and the emerging resources for more widespread use of PRSs.

    • Linda Kachuri
    • Nilanjan Chatterjee
    • Tian Ge
    Review Article
  • In this Review, Zhou et al. discuss our current understanding of the genetic control of key steps involved in human brain development and diseases, and they describe current and emerging approaches for investigating the underlying genetic architecture.

    • Yi Zhou
    • Hongjun Song
    • Guo-li Ming
    Review Article
  • This Review explores the use of non-mammalian model organisms in the genetic diagnosis of rare diseases, focusing on the use of worms, flies and zebrafish. The strategies, genetic technologies and approaches to using these models are discussed, as well as how they can provide insight into more common disease mechanisms.

    • Shinya Yamamoto
    • Oguz Kanca
    • Hugo J. Bellen
    Review Article
  • Control can be applied to alter the ecological or evolutionary trajectory of a target system towards a predefined objective. In this Review, the authors discuss the aims, applications, mechanisms and dynamics of eco-evolutionary control across different biological systems.

    • Michael Lässig
    • Ville Mustonen
    • Armita Nourmohammad
    Review Article
  • In this Review, the authors summarize the current evidence for the use of genomic sequencing in newborn screening for rare diseases. As several large-scale studies launch internationally, the authors discuss major challenges and opportunities that lie ahead and identify key research priorities.

    • Zornitza Stark
    • Richard H. Scott
    Review Article
  • In this Review, the authors describe how the application of new technologies to the microRNA (miRNA) field has yielded key insights into miRNA biology. The authors summarize our current understanding of miRNA biogenesis, function and processing, and highlight challenges to address in future research.

    • Renfu Shang
    • Seungjae Lee
    • Eric C. Lai
    Review Article