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Plants have uniquely adapted to manage endoplasmic reticulum stress triggered by protein misfolding. The authors review the dynamics of gene expression regulation underlying the unfolded protein response in plants, highlighting recent insights provided by systems-level approaches and omics data.
This Review highlights the diversity in sequence composition of disease-related short tandem repeats. The authors discuss how to detect non-canonical motifs in repeat sequences from sequencing data and review the molecular and clinical consequences of sequence composition changes.
In this Review, Sayers et al. summarize findings from recent large-scale genetic epidemiology studies on the genetic underpinnings of chronic respiratory diseases. Furthermore, they outline how insights gained from such studies can improve treatment approaches.
Therapeutics that target long non-coding RNAs (lncRNAs) are promising treatments for cancer. In this Review, the authors discuss how technological advances have helped improve drug discovery pipelines for lncRNAs and overview their strengths and challenges as oncological therapeutics.
Plant pangenomes have had a transformative impact on crop enhancement, biodiversity conservation and evolutionary research. This Review delves into the application of plant pangenomes for understanding trait diversity, aiding breeding, biodiversity classification and monitoring, and illuminating evolutionary innovations.
This Review discusses the evolutionary origin of Wnt signalling, its ancestral function and the characteristics of the primal Wnt ligand. It emphasizes the importance of genomic studies in pre-metazoan and basal metazoan species to understanding the evolutionary origin of signalling pathways.
This Review describes tools and approaches for characterizing short tandem repeats in the human genome from whole-genome sequencing data. Furthermore, the authors discuss how these recent developments have helped to better understand the effect of short tandem repeats on human health and disease.
To successfully invade bacteria, bacteriophages and other mobile genetic elements must overcome numerous types of bacterial defence systems. Here, the authors review the discovery and mechanisms of direct inhibitors of bacterial defence systems, as well as their applications in biotechnology.
In this Review, Patrick Keeling proposes that the eukaryotic-specific processes of phagocytosis and endosymbiosis are unlikely to increase the frequency of horizontal gene transfers, because most of the transferred genes will be non-essential and will thus not be selected for the long term.
In this Review, the authors summarize recent progress in cell–cell interaction (CCI) research. They describe the recent evolution in computational tools that underpin CCI studies, discuss improvements in experimental methods enabling more high-throughput analyses of CCIs, and highlight future directions for the field.
Genomic technologies have greatly improved the diagnosis of rare genetic diseases. Here, the authors review emerging approaches for the identification of disease-causal genetic variants as well as omic technologies that show great potential for variant interpretation.
In this Review, the authors summarize and discuss guidelines for omics benchmarking. They highlight common oversights and difficulties, offer guidance for frequently encountered issues and provide a structured form that can be used for comprehensive reporting of benchmarking studies.
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.
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 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.