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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.
Segun Fatumo highlights a paper by Mahajan et al. that uses a multi-ancestry genome-wide association studies approach to uncover the genetic underpinnings of type 2 diabetes, emphasizing the importance of incorporating diverse populations in such studies.
Geopolitical instability has prompted renewed discussions on the risks of DNA technology being weaponized in international conflict. With today’s changing security environment, the authors argue that risk assessments must be broadened from genetically targeted weapons to a series of new domains.
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.
Three papers in Nature report on the largest open-access plasma proteomics dataset to date, a valuable resource for understanding human disease and the identification of drug targets.
Li Zhao recalls a 2006 paper by Levine et al. that, by identifying a handful of de novo genes, outlined a potentially universal process of de novo gene birth and propelled forward this field of research.
Legnini et al. report in Nature Methods their new optogenetic method for controlling gene expression in organoids that can be coupled with single-cell and spatial transcriptomics.
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.
Guhlin et al. sequenced the genomes of almost the entire extant population of the critically-endangered kākāpō, revealing genetic variants for fitness-related traits that can inform conservation strategies.
Luis Barreiro highlights a 2007 paper by Tishkoff et al. that identified genetic variants associated with lactose persistence in East African populations, representing one of the first examples of convergent evolution in humans.
