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In this Perspective, the authors discuss how regulated alternative splicing can generate phenotypic diversity and outline emerging evidence that alternative splicing contributes to adaptation and species divergence.
Molecular measures of biological ageing based on high-throughput omics technologies are enabling the quantitative characterization of ageing. The authors review how epigenomic, transcriptomic, proteomic, metabolomic and other omics data can be harnessed using machine learning to build ‘ageing clocks’.
In this Review, Kim and Kingston discuss the compositional and mechanistic diversity of Polycomb repressive complexes (PRCs) and how their context-dependent formation may be required for proper epigenetic regulation in development.
tRNA function and gene expression profiles are dynamically regulated by post-transcriptional tRNA modifications. Here, Orellana et al. discuss the canonical role of tRNAs in mRNA translation, focusing on alterations in tRNA abundance or function implicated in human diseases.
Dupont and Wickström review the current understanding of how mechanical forces regulate chromatin state and gene expression and discuss the importance of this mechanosensitive gene regulation to physiology and disease.
Commemorating the 200th birthday of Gregor Mendel, Kim Nasmyth reflects on Mendel’s life and legacy and how his work has shaped and defined the field of modern genetics.
Publicly available sequencing data can be used as external common controls for rare variant analyses but cautious sample ascertainment and processing is needed to avoid bias and confounding. The authors review opportunities and challenges for the robust use of common controls in genetic studies, including study design, infrastructure and quality control considerations.
In this Review, the authors give an overview of age-related changes to the methylation landscape and the statistical tools used to quantify them. They also discuss the evidence for longevity strategies that aim to counter these changes, and the candidate mechanistic causes of epigenetic ageing.
In this article, Niemi, Daly and Ganna discuss how large-scale genomics studies are providing a rapidly maturing understanding of the influence of host genetics on coronavirus disease 2019 (COVID-19) susceptibility and severity. They also describe the implications for identifying causal mechanisms of pathology and potential therapeutic opportunities.
Rackham and Filipovska review our current understanding of mitochondrial genome organization and expression, and discuss how new technologies and animal models are providing insights into how its mis-regulation leads to diseases of impaired energy conversion.
In this Review, the authors describe how phylogenetic and phylodynamic methods provide insight into viral evolution, focusing on the SARS-CoV-2 pandemic. The approaches reveal routes and timings of transmission events, and they can assess the effectiveness of various intervention measures aimed at controlling the virus.
In this Viewpoint, we asked six experts to give their opinions on the utility of polygenic scores, their strengths and limitations, and the remaining barriers that need to be overcome for their equitable use.
Histone post-translational modifications (PTMs) have been mainly regarded as instructing DNA-templated processes. In this Review, Gonzalo Millán-Zambrano and colleagues describe how histone PTMs both affect and are affected by these DNA processes and should be viewed as components of a complex genome-regulating network.
This Review discusses the types of single and multiple human organ-on-a-chip (organ chip) microfluidic devices and their diverse applications for disease modelling, drug development and personalized medicine, as well as the challenges that must be overcome for organ chips to reach their full potential.
DNA methylation-based predictors of health aim to predict outcomes such as exposure, phenotype or disease on the basis of genome-wide levels of DNA methylation. The authors review applications of existing DNA methylation-based predictors and highlight key statistical best practices to ensure their reliable performance.
In this Review, Boulias and Greer provide an overview of current approaches for detecting and mapping N6-methyl-2′-deoxyadenosine (6mA or m6dA), and discuss the evidence for its presence and functional importance in the genomes of multicellular eukaryotes.
In this Perspective, Pecori et al. provide an overview of the AID/APOBEC cytidine deaminase family, discussing key structural features, how they contribute to viral and tumour evolution and how they can be harnessed for (potentially therapeutic) base-editing purposes.
In this Review, the authors describe technical and legal protection mechanisms for mitigating vulnerabilities in genomic data privacy. They also discuss how these protections are dependent on the context of data use such as in research, health care, direct-to-consumer testing or forensic investigations.
Single-cell transcriptomics is beginning to systematically define commonalities but also heterogeneity within and between organs for multiple human cell types. Here, the authors review emerging biological insights from cross-tissue single-cell transcriptomic studies into epithelial, fibroblast, vascular and immune cells.
