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Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Air flowing out from the Antarctic continent largely determines where summer atmospheric mercury depletion events (AMDEs) occur around Antarctica, making them most common in areas where Antarctic cold, downslope winds meet.

Stone tools illustrate behavioural complexities in Middle Pleistocene hominin populations. Here, the authors present small dimensional flakes and hafted tools from Xigou, central China, dated to ~160–72 thousand years ago that demonstrate early, complex technological advancements.

Humanity’s Last Exam, a multi-modal benchmark at the frontier of human knowledge, is designed to be an expert-level closed-ended academic benchmark with broad subject coverage.

Researchers introduce sodium sulfamate as a bromine scavenger for zinc/bromine flow batteries, reducing levels of corrosive free bromine. This innovation boosts energy density, cycle life, and corrosion resistance, offering a promising route to stable, cost-effective large-scale energy storage.

Fanjiang Kong, Zhixi Tian, Xingliang Hou, Baohui Liu and colleagues report the cloning and functional characterization of J, the locus underlying the long-juvenile (LJ) trait that has enabled tropical cultivation of soybean. They show that J, an ortholog of Arabidopsis ELF3, downregulates the expression of E1, thereby promoting flowering under short-day conditions.

The extreme hot and dry conditions of 2023 reduced soil respiration and enhanced net forest carbon sequestration in Canada, offsetting wildfire emissions, according to satellite-based and in situ observations of CO₂ fluxes.

Identifying jets originating from heavy quarks plays a fundamental role in hadronic collider experiments. In this work, the ATLAS Collaboration describes and tests a transformer-based neural network architecture for jet flavour tagging based on low-level input and physics-inspired constraints.

cellSTAAR advances noncoding rare variant association analysis by integrating single-cell genomics data.

Taveneau et al. leverage artificial-intelligence-driven protein design to create inhibitors that control RNA-targeting enzymes in cells, revealing a strategy to rapidly design off-switches for RNA-editing systems.

The 4D Nucleome Project demonstrates the use of genomic assays and computational methods to measure genome folding and then predict genomic structure from DNA sequence, facilitating the discovery of potential effects of genetic variants, including variants associated with disease, on genome structure and function.

Detection of hot intracluster gas in SPT2349−56 with the Atacama Large Millimeter/submillimeter Array provides new insights into early cluster formation.

Murphy et al. reveal a unifying pathogenetic mechanism according to which diverse mutations in the muscle-specific ribosomal protein RPL3L cause severe neonatal dilated cardiomyopathy, establishing a framework for interpreting the growing spectrum of RPL3L variants.

High-throughput chemical ligand discovery is challenged by false positives. Here, authors introduce a scalable enantioselective affinity-selection mass spectrometry approach for proteome-wide ligand discovery with high sensitivity and selectivity

Classical theory predicts that glass dynamics exhibit a singularity at some finite temperature. Zhao et al. test this theory in fossil amber by determining upper bounds of the equilibrium relaxation times, and find no such behaviour even far below the glass transition challenging conventional assumptions.

Disparities in risk and outcomes of pediatric acute lymphoblastic leukemia (ALL) are apparent between different ancestries. Here the authors identify genetic variants with African ancestry-specific risks for developing pediatric B-cell ALL that are also linked to greater 5-year mortality risk.

A key component of quantum error correction is the decoding algorithm, which needs to be accurate but also with a computational overhead that doesn’t lead to backlogs and allows fast logical clock rates. Here, the authors show an FPGA-driven decoder featuring a coarse-grained parallel architecture and on-the-fly error model updates, allowing both high accuracy and real-time operation.

B cell subsets expanding during tumor progression have been associated with impaired anti-tumor responses and resistance to immunotherapy. Here the authors report that STING agonism or anti-PD-1 induce intratumoral B cell infiltration, and that depleting B-cells improves response to immunotherapies in preclinical models of hepatocellular carcinoma.

Neuroimaging of the cerebellum in infants has been challenging. Here the authors describe a framework for cerebellum MRI segmentation in infants up to 2 years.

Serotonin produced by neuronal and non-neuronal cells has important roles in metabolism and behavior. Here, authors show that serotonin interprets different bacterial diets to guide context-dependent behaviors in C. elegans.

Confinement effects enable the design of intersubband polaritons (ISPs) in semiconductor quantum wells (QWs), but this type of light-matter excitations has been rarely explored in van der Waals materials. Here, the authors report the observation of hyperbolic ISPs in WO_x/WSe₂ QW heterostructures with electrically tunable dispersions.

The mechanisms of intratumoral subtype heterogeneity in pancreatic ductal adenocarcinoma (PDAC) remain unclear. Here, the authors analyse PDAC tumours and preclinical models using multi-omics and imaging; they demonstrate that AP1 dichotomy influences tumor plasticity, heterogeneity, and immune response, with potential therapeutic implications.

Volcanism identified by Pb–Pb dating of basalt fragments returned by the Chang’e-6 mission from the farside of the Moon gives a young eruption age of 2,807 ± 3 Ma, consistent with the crater-counting age.

Patients with kidney failure undergoing maintenance hemodialysis have poor long-term survival. Here the authors use affinity-based proteomics to identify circulating risk factors for mortality in patients with kidney failure on hemodialysis.

This study presents a programmable mRNA nanomedicine that induces tumour-specific immunogenic cell death in immunologically cold and metastatic tumours with enhanced safety, advancing next-generation strategies for personalized cancer immunotherapy

GTPase-activating proteins (GAPs) often contain regulatory PH domains. In this work, Soubias et al, using an integrated structure-function approach, discovered a mechanism where a GAP PH domain binds directly to a GTPase to induce allosteric changes facilitating GTP hydrolysis.

This work presents a fully implantable wireless optogenetic device that delivers spatiotemporally patterned cortical stimulation through the skull and generates artificial perception in mice.

Zhao et al. generated models from whole blood gene expression to predict amyotrophic lateral sclerosis case-control status and combined gene features with clinical variables to predict survival, both validated in an external independent dataset.

This study reveals that graded expression of the transcription factor BRN3B fine-tunes the identity and function of melanopsin-expressing ipRGC subtypes in the retina. Altering BRN3B levels disrupts subtype-specific features and visual behaviour.

Alcohol use disorder drives transcriptional and regulatory changes in the caudate nucleus. Here, authors show, using a single-cell multiomic analysis, cell type-specific disruptions of gene expression, chromatin accessibility, and cell communication.

The intrinsic robustness to perturbations makes antiferromagnets ideal building blocks for spintronic devices, however, it also manipulation and detection of antiferromagnetic ordering difficult. Here, Xu et al demonstrate an anisotropic tunnelling magnetoresistance in an all-antiferromagnetic tunnel junction.

Training macaque monkeys with distinct sets of shapes resulted in novel domain formation in inferotemporal cortex. The localization of these domains was similar across monkeys, regardless of set-training order. The stereotyped location of the training-induced domains suggests a pre-existing architecture, and the authors explored various possible proto-architectures.

Garnet-type LLZO electrolytes are considered among the most promising solid-state electrolytes for all-solid-state batteries; however, numerous challenges need to be addressed before they are integrated into a cell. By precipitating amorphous zirconium oxide onto grain boundaries, increased ionic conductivity is observed and dendrite growth is suppressed.

The histone methyltransferase ASH1L has been linked to tumorigenesis, mainly in leukemia. Here, authors report that ASH1L cooperates with HIF-1α to induce a pro-metastatic transcriptome in prostate cancer cells, and promotes conversion of monocytes to lipid-associated tumor-associated macrophages in the bone metastatic niche.

Basal Pancreatic Ductal Adenocarcinoma (PDAC) is more aggressive than the classical subtype of pancreatic cancer. Here the authors report that RNA-binding protein LIN28B and its target HMGA2 drive basal PDAC pathogenesis by reducing PP2A methylation and activity, resulting in enhanced protein synthesis and aggressive features.

Sleep loss has been known to increase seizure risk since antiquity, but the underlying mechanisms remain unclear. Using fruit-fly epilepsy models, the authors show that rising “sleep drive”, not sleep duration, is what triggers seizures.

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

A wearable hydrogel-based electrochemical platform is presented for on-demand hydrogen gas therapy, enabling localized gas generation, storage and sustained delivery. This device offers a therapeutic modality for treating ischemia–reperfusion heart disease and skin bedsores, expanding bioelectronics applications in gas-phase chemical delivery.

A new artificial intelligence model, DeepSeek-R1, is introduced, demonstrating that the reasoning abilities of large language models can be incentivized through pure reinforcement learning, removing the need for human-annotated demonstrations.

In germ-free mice colonized with human microbiota, mucosal IL-22 signaling promotes the growth of succinate-consuming commensal bacteria via host mucus glycosylation, and transplantation of these bacteria limits Clostridioides difficile infection.

Multiancestry fine-mapping of brain protein quantitative trait loci coupled with Mendelian randomization analyses identifies protein–trait pairs consistent with causal effects across neurological and psychiatric conditions.

Net-zero bioplastics are possible when combined with high recycling rates. This study presents a mixed polyester recycling process integrated with monomer separation and purification for both fossil- and bio-based plastics. Techno-economic and life cycle analyses confirm its environmental and commercial advantages, advancing the path toward circular, low-emission polyester plastics.

Gene isoforms are quantified with a machine learning method that optimally integrates long and short sequencing reads.

The authors reveal an inherent trade-off between logarithmic average phonon frequency and the electron-phonon coupling constant in conventional BCS superconductors. The analysis suggests that achieving room-temperature conventional superconductivity at ambient pressure is extremely unlikely.

Cell type labelling in single-cell datasets remains a major bottleneck. Here, the authors present AnnDictionary, an open-source toolkit that enables atlas-scale analysis and provides the first benchmark of LLMs for de novo cell type annotation from marker genes, showing high accuracy at low cost.

Heterometallic nanomaterials in unusual crystal phases that are impossible to form in the bulk state can show interesting physical and chemical properties. Here, crystal-phase heterostructured 4H/fcc Au nanowires are used as seeds to epitaxially grow a variety of binary and ternary hybrid noble metal nanostructures on the phase boundary.