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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.
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.
In this Comment, Ahmad Abou Tayoun advocates for studies inclusive of historically under-represented populations to ensure equitable global access to genomic newborn screening.
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.
