Reviews & Analysis

In this Review, Hwang and co-authors outline single-molecule fluorescence imaging techniques that can be used in living cells to visualize individual molecules involved in the spatiotemporal regulation of gene expression. This Review also delves into the biological insights gained through these methodologies.

This Perspective reviews large-scale genomics and longitudinal phenomics efforts and the insights they can provide into wellness. The authors describe their vision for the transformation of the current health care from disease-oriented to data-driven, wellness-oriented and personalized population health.

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.

In this Perspective, Carolyn Hogg discusses the utility of genomic data to conservation and the importance of adopting a translational mindset to ensure that genomics is used to its full potential to protect Earths’ declining biodiversity.

In this Review, the authors summarize the biological roles of chromatin remodellers and describe the complex mechanisms that underpin their specific functions, with an emphasis on evidence from large-scale genetic studies.

In this Review, Hananya et al. discuss how designer chromatin containing specific patterns of post-translational modifications is being used to study the mechanisms underlying the epigenetic regulation of gene expression.

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.

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.

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.

This Review discusses the genetic architecture of inborn errors of immunity (IEIs), highlighting the role of common genetic variants, concepts related to their incomplete penetrance and the increasing incidence of IEIs affecting distal organ systems.

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.

Five leading researchers provide their perspectives on our current understanding of pioneer factors and their important gene regulatory roles in cell differentiation, cell fate determination and reprogramming.

Commemorating the 40th anniversary of Barbara McClintock’s Nobel Prize in Physiology or Medicine for her discovery of transposable elements, Cédric Feschotte reflects on McClintock’s life and legacy and how her work has shaped and defined the field of genetics.

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.

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.

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.

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.

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.

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.

In this Review, the authors discuss recent advances in our understanding of Mediator and TFIID, coactivators associated with the RNA polymerase II (Pol II) pre-initiation complex (PIC), focusing on their structure, interactions with activators and impact on the function of the PIC.