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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.

Untargeted metabolomics faces challenges in metabolite origin inference and metabolite annotation. Here, the authors present TidyMass2, a user-friendly computational framework with metabolite origin inference and feature-based functional module analysis to enhance biological interpretation.

Here the authors report that some aspects of clinical heterogeneity in type 2 diabetes vary across populations. Using a deep-learning–based tree model built from over 32,000 patients, they document disease patterns and risks specific for the Chinese population, potentially enabling more precise prediction and personalized care.

Electrochemical CO reduction to multi-carbon products offers a carbon-negative approach to produce chemicals, but the intricate reaction pathways lead to a broad spectrum of products. Now it has been shown that alkali cations alter the mechanistic pathways that govern the reaction selectivity involved in the formation of hydrocarbons versus oxygenates.

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.

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.

Therapeutic options for patients with renal medullary carcinoma (RMC) are limited. Here the authors report the results of a phase II clinical trial of anti-PD1 nivolumab plus anti-CTLA4 ipilimumab in RMC, associating the activation of a myeloid mimicry program in tumor cells to the rapid disease progression and hyper-progression observed in treated patients.

Examples of materials with non-trivial band topology in the presence of strong electron correlations are rare. Now it is shown that quantum fluctuations near a quantum phase transition can promote topological phases in a heavy-fermion compound.

Generation of orbital currents in a non-magnetic material can be useful to build efficient orbitronic devices. Now, the interplay of chiral phonons and electrons is shown to produce orbital currents in α-quartz.

Language is often thought to be represented through hierarchically structured units. Nielsen and Christiansen find that non-hierarchical structures are present across reaction-time tasks, eye-tracked reading and natural conversation.

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

The authors quantify the changes in heat stress exposure at the district level in India from 1981-2023 using high resolution spatiotemporal data. Findings also highlight caste-based inequality in outdoor occupational heat stress exposure.

Thermal lepton pairs are ideal probes for the temperature of quark-gluon plasma. Here, the STAR Collaboration uses thermal electron-positron pair production to measure quark-gluon plasma average temperature at different stages of the evolution.

The CMS Collaboration reports the measurement of the spin, parity, and charge conjugation properties of all-charm tetraquarks, exotic fleeting particles formed in proton–proton collisions at the Large Hadron Collider.

With rich, multi-layered baseline data and long-term follow-up through linkage, the HELIOS Study provides a resource to investigate the behavioural, environmental, genomic, and molecular factors impacting health in Asian populations.

Liu et al. report Chinese normative lifespan brain charts showing later neurodevelopmental milestones than those detected in Western cohorts. Individual deviations from these norms are valuable in assessing clinical risk and outcomes.

The Taiwan Precision Medicine Initiative recruited and genotyped more than half a million Taiwanese participants, almost all of Han Chinese ancestry, and performed comprehensive genomic analyses and developed polygenic risk score prediction models for numerous health conditions.

In this work, fragments identified by 19F-NMR are optimized into submicromolar binders of the MITF transcription factor. These results support direct targeting of bHLH-LZ DNA binding domains and provide a foundation for the development of new melanoma therapies.

Oat is an important food crop, but the genetic diversity within the gene pool remains unclear. Here, the authors report the analyses of worldwide diversity and population structure of hexaploid oat, and identify signatures of structural rearrangements within the germplasm collection.

Human milk oligosaccharides (HMOs) have highly diverse and branched structures that present a significant challenge for chemical synthesis. Here, the author reports that masking the amino group in glucosamine with a p-nitrobenzyloxycarbonyl (pNZ) group enhances coupling and deprotection efficiency during the automated glycan assembly (AGA) of homogeneous HMOs.

Single-cell transcriptomic analyses of Plasmodium falciparum and Anopheles gambiae reveal key developmental stages, processes and factors in parasite–mosquito interactions and identify potential targets for blocking malaria transmission.

Quark–antiquark annihilation measurements provide a precise determination of the ratio of down and up antiquarks within protons as a function of momentum, which confirms the asymmetry between the abundance of down and up antiquarks.

In situ cryo-electron microscopy structures show the spatial arrangement of flagellin proteins and provide insight into mechanisms of assembly and rotation of the sheathed flagellum in Vibrio cholerae.

CEST MRI is a unique molecular contrast that indicates specific proton exchange. Its wide clinical translation has been hindered by long scan time. Huabing Liu and colleagues developed a high performance deep-learning-based reconstruction method to enable fast CEST imaging.

An NNMT inhibitor reduces tumour burden and metastasis in multiple mouse cancer models and restores immune checkpoint blockade efficacy by decreasing cancer-associated-fibroblast-mediated recruitment of myeloid-derived suppressor cells and reinvigorating CD8⁺ T cell activation.

Cells survive starvation by activating protective pathways. Here, the authors describe that kinase EFK-1/eEF2K defends against oxidative damage in long term starvation in C. elegans independently from its kinase activity and translation regulation.

Urea electrooxidation can lower the energy demand of hydrogen production but is limited by slow reaction rates and poor durability. We design a robust Ni-Co-Mn trimetallic catalyst that sustains industrial-scale currents while efficiently driving the urea oxidation reaction.

High-depth sequencing of non-cancerous tissue from patients with metastatic cancer reveals single-base mutational signatures of alcohol, smoking and cancer treatments, and reveals how exogenous factors, including cancer therapies, affect somatic cell evolution.

A combination of genome-wide functional screening, imaging and chromatin profiling identifies a new class of highly prevalent genomic elements that help retain extrachromosomal DNA copies in dividing cells and persist across generations.

Known to augment host innate immunity, Zhou and Ahearn et al. shows that a SARS-CoV2 NSP15 mutant also increases viral recombination and reduces sub-genomic message. Results articulate a novel role for NSP15 in viral transcription and recombination.

Engineered polar nanoclusters in tin-doped barium titanate thin films enable microwave tunability of ~74% at 6 GHz under low bias, offering a strategy to achieve high tunability with minimal dielectric loss for microwave communication.

CAR-T cell therapy has been shown to be effective in immunotherapy for treatment of several different tumours. Here the authors show pre-specified interim outcomes from a P-BCMA-ALLO1 trial with BCMA targeted CAR-T therapy in multiple myeloma.

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

This study reveals how the nature of optical excitation governs hot-carrier transport in transition metal oxides and directly visualizes distinct transport regimes via high spatiotemporal resolution imaging.

In this target trial emulation study, the authors evaluate effectiveness of nirmatrelvir/ritonavir in non-hospitalized paediatric patients aged 12–17 years with SARS-CoV-2 Omicron infection and show reduced risks of 28 day all-cause mortality or hospitalization associated with the treatment.

The development of DNA-based machines is transforming fields such as drug delivery and biosensing. Here, design strategies are discussed and key performance metrics — speed, force generation, efficiency and autonomy — are examined to provide insights into the future of DNA nanotechnology.

The evolutionary mechanisms leading to symbiont replacement in insects are not well understood. Zhou et al. show that genome degradation results in nested symbiosis and endosymbiont replacement in cicadas, offering insight into the endosymbiotic origins of cellular organelles.

Edge localised modes (ELMs) in highly confined plasmas are notoriously difficult to regulate. Here, the authors analyse multiscale modes and interactions by combining experimental measurements from DIII-D and modeling, showing promising results in ELM control.

Lewis acid additive semicarbazide hydrochloride improves the formation of α-phase FAPbI₃-based films and promotes a homogeneous vertical distribution of A-site cations through a deprotonation–reprotonation process. The upgraded device performance reaches up to 26.12% with high stability, and mini-module perovskite solar cells achieving 21.47% (area, 11.52 cm²) demonstrate great scalability.

A pangenome of oat, assembled from 33 wild and domesticated oat lines, sheds light on the evolution and genetic diversity of this cereal crop and will aid genomics-assisted breeding to improve productivity and sustainability.

The quark structure of the f₀(980) hadron is still unknown after 50 years of its discovery. Here, the CMS Collaboration reports a measurement of the elliptic flow of the f₀(980) state in proton-lead collisions at a nucleon-nucleon centre-of-mass energy of 8.16 TeV, providing strong evidence that the state is an ordinary meson.