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Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.

The millimetre image of the Centaurus A nucleus by the Event Horizon Telescope reveals a highly collimated, asymmetrically edge-brightened jet. The source’s event horizon shadow should be visible at terahertz frequencies, consistent with the universal scale invariance of black holes.

To address the question of whether a recurrent tumour is genetically similar to the tumour at diagnosis, the evolution of medulloblastoma has been studied in both an in vivo mouse model of clinical tumour therapy as well as in humans with recurrent disease; targeted tumour therapies are usually based on targets present in the tumour at diagnosis but the results from this study indicate that post-treatment recurring tumours (compared with the tumour at diagnosis) have undergone substantial clonal divergence of the initial dominant tumour clone.

Support for healthcare workers impacted by COVID-19 comes from the performing arts.

NKG7 is a molecule well associated with NK cells but of unknown function. Engwerda and colleagues demonstrate that NKG7 is also associated with T_H1 cells and is essential for type I and cytotoxic responses.

Statistical mapping techniques provide insights into the spread of two key arbovirus vectors in Europe and the United States, and predict the future distributions of both mosquitoes in response to accelerating urbanization, connectivity and climate change.

Placing a single layer of tungsten diselenide in contact with twisted bilayer graphene enables superconductivity even for non-magic twist angles where insulating behavior is absent.

A multi-channel molecular recording technique is applied as a lineage tracer to assemble cell-fate maps from fertilization through gastrulation in the mouse, providing insights into ontogeny in a complex multicellular organism.

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

When a cue is provided, people can rapidly attend to a changing scene and remember how it looked right after the cue appeared, but if the scene changes gradually, there is a delay in what we remember. Here the authors model these effects as prolonged attentional engagement.

A multiomics approach is used to produce a spatiotemporal atlas of the human maternal–fetal interface in the first half of pregnancy, revealing relationships among gestational age, extravillous trophoblasts and spiral artery remodelling.

The Zwicky Transient Facility has observed a transitioning white dwarf with two faces, with one side of its atmosphere dominated by hydrogen and the other by helium.

A pan-Amazon study of forests shows large variations in drought tolerance traits and finds that forests in regions of pronounced climate change are losing biomass and may be operating beyond their hydraulic limits.

The Cancer Genome Atlas Research Network report integrated genomic and molecular analyses of 164 squamous cell carcinomas and adenocarcinomas of the oesophagus; they find genomic and molecular features that differentiate squamous and adenocarcinomas of the oesophagus, and strong similarities between oesophageal adenocarcinomas and the chromosomally unstable variant of gastric adenocarcinoma, suggesting that gastroesophageal adenocarcinoma is a single disease entity.

Algae hold great promise for biofuel and chemical production but their use as model systems is hampered by the absence of suitable genetic tools. Here Karas et al. present a nuclear episomal vector for diatoms that is maintained in the absence of antibiotics, and a plasmid delivery method via conjugation with E. coli.

There are now nearly 1,000 completed bacterial and archaeal genomes available, but as most of them were chosen for sequencing on the basis of their physiology, the data are limited by a highly biased phylogenetic distribution. To explore the value added by choosing microbial genomes for sequencing on the basis of their evolutionary relationships, the genomes of 56 species of Bacteria and Archaea selected to maximize phylogenetic coverage are now sequenced and analysed.

Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.

Hidden marine heatwaves, associated with ocean eddies that modulate undersea internal waves, threaten coastal ecosystems by driving unexpected sub-surface heating and severe coral bleaching and mortality across depths.

Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.

Mission seeking clues to early Solar System finds a world made anew.

This study describes the integrative analysis of 111 reference human epigenomes, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression; the results annotate candidate regulatory elements in diverse tissues and cell types, their candidate regulators, and the set of human traits for which they show genetic variant enrichment, providing a resource for interpreting the molecular basis of human disease.

Patterned organoids and bioprinted tissues can be generated by simultaneously co-differentiating pluripotent stem cells into distinct cell types via the forced overexpression of transcription factors, independently of culture-media composition.

A study establishes a scalable approach to engineer and characterize a many-body-localized discrete time crystal phase on a superconducting quantum processor.

Comprehensive factor analysis of core diagnostic features provides insights into the complex genetic architecture underlying phenotypic heterogeneity in autism.

The authors summarize the history of the ENCODE Project, the achievements of ENCODE 1 and ENCODE 2, and how the new data generated and analysed in ENCODE 3 complement the previous phases.

Recent improvements in the indirect-drive inertial confinement fusion experiments include the achievement of burning plasma state. Here the authors report the scaling of neutron yield in a burning plasma of Deuterium-Tritium fusion reaction by including the mode-2 asymmetry.

Cytosine methyltransferases (DNMTs) often silence transposons in eukaryotic genomes. Here the authors describe the recurrent acquisition of DNMTs by transposons from two distantly-related eukaryotes and suggest that methylation of CG dinucleotides by transposon DNMTs could modify the host epigenome in dinoflagellates.

The discovery of superconductivity in the heavy fermion compound UTe2, a potential topological and triplet-paired superconductor, has generated significant interest in condensed matter physics with particular interest in the nature of the Fermi surface. Here, the authors employed a contactless conductivity technique to investigate the quantum interference oscillations of compressed UTe2 up to 19.5 kbar, aiming to examine key features of its Fermi surface.

Arabidopsis MPK3 and MPK6 are involved in many biological processes. How do they achieve their signalling specificity? Structural, biochemical and genetic approaches show that the bHLH protein SCREAM acts as a scaffold to recruit downstream substrates during stomatal development.

Most testicular germ-cell tumours are exquisitely sensitive to platinum-based chemotherapies, but little is known about why 10% are resistant. Here, the authors explore the potential underlying mechanisms by probing the genomic landscape of platinum-resistant disease.

High-throughput screening and activity-based protein profiling find a selective and in vivo–active inhibitor of the membrane-associated serine hydrolase ABHD12 that alters lysophospholipid content and has immunostimulatory effects.

Internal waves can relieve coral reef heat stress, according to an analysis that isolates the effect at different depths using a compilation of high-resolution temperature records.

Temozolomide therapy seems to lead to mismatch repair deficiency and hypermutation in gliomas, but not to an increase in response to immunotherapy.

City-level analysis of data from the SALURBAL project shows vast heterogeneity in life expectancy across cities within the same country, in addition to substantive differences in causes of death among nine Latin American countries, revealing modifiable factors that could be leveraged by municipal-level policies aimed toward improving health in urban environments.

On 15–16 June 2022, the National Institute of Allergy and Infectious Diseases hosted a virtual workshop on the topic of T cell technologies to discuss assays, novel technology development, bench and clinical application of those technologies, and challenges and innovations in the field.

Metagenomics describes the analysis of genetic information in a microbial community to provide taxonomic or functional information on the constituent microorganisms. This Primer describes suitable sample types, sampling handling and processing workflows for metagenomics, and gives a detailed discussion of the various analysis techniques to generate meaningful information from metagenomic data.

Marine heatwaves are climatic extremes with devastating and long-term impacts on marine ecosystems, fisheries and aquaculture. Here the authors use a range of ocean temperature observations to identify significant increases in marine heatwaves over the past century.

Ray Ming, Robert Paull, Qingyi Yu and colleagues report the genome sequences of two cultivated pineapple varieties and one wild pineapple relative. Their analysis supports the use of the pineapple as a reference genome for monocot comparative genomics and provides insight into the evolution of crassulacean acid metabolism photosynthesis.

There is increasing demand for synthetic DNA. However, our ability to make, or write, DNA lags behind our ability to sequence, or read, it. This Review discusses commercialized DNA synthesis technologies in the pursuit of closing the DNA writing gap.

Marine heatwaves (MHWs) have become more intense and widespread globally, affecting species, ecosystems and people. After summarizing how and why MHWs are changing, this Review explores these impacts and their underlying mechanisms, highlights knowledge gaps and considers opportunities to mitigate the effects of MHWs.

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

In 2023–2024, widespread marine heatwaves associated with record ocean temperatures impacted ocean processes, marine species, ecosystems and coastal communities, with economic consequences. Despite warnings, interventions were limited. Proactive strategies are needed for inevitable future events.

This study shows that the contrast in tectonic regime between primarily strike-slip faulting in northern Tibet and dominantly normal faulting in southern Tibet requires mechanical coupling between the upper crust of southern Tibet and the underthrusting Indian crust. Such coupling is inconsistent with the presence of active ‘channel flow’ beneath southern Tibet, and indicates that the Indian crust retains its strength as it underthrusts the plateau.

One of the many unusual characteristics of graphene is that it shows ‘puddles’ of positive and negative charge throughout. A systematic scanning tunnelling microscope study shows that these puddles are not a consequence of ripples in graphene’s structure as originally thought, but are due to charged impurities below its surface.