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

In this work, the authors demonstrate nonlinearity-engineered dissipative quadratic solitons (DQS) for the first time. Moreover, they achieve an in-situ sign reversal of the effective nonlinearity, enabling a transition from bright DQS to platicon generation without requiring any dispersion engineering.

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.

Bicycling offers great benefits for urban residents in low- and middle-income countries, yet pathways to scale its adoption remain poorly understood. This study reveals the current state of bicycling infrastructure and policy, as well as key barriers, through fieldwork in four cities.

PCNA–PAF15 has a key role in determining replisome dynamics during genome replication and protecting against genome instability.

Antimony selenide is a promising photovoltaic material, but the presence of point defects degrades performance. Here, the authors use positron annihilation spectroscopy combined with theory to detect and identify vacancy-type point defects.

Fast panoramic rotational ultrasound tomography and photoacoustic tomography are integrated for hybrid rotational ultrasound and photoacoustic tomography, for three-dimensional dual-contrast imaging of soft tissue and vasculature across the human body.

Heparan sulfate proteoglycans facilitate the assembly of clusters of glycoRNAs and cell surface RNA-binding proteins, which negatively modulate VEGF-A signalling and angiogenesis.

MedHELM, an extensible evaluation framework including a new taxonomy for classifying medical tasks and a benchmark of many datasets across these categories, enables the evaluation of large language models on real-world clinical tasks.

A cavity-array microscope is realized using intra-cavity lenses to create a two-dimensional array of over 40 modes, each coupled to a single atom in free-space.

One-shot tissue dynamics reconstruction can infer changes in tissue composition over time, from single-time-point spatial proteomics of human cancers.

Risk associated with genetically defined forms of autism spectrum disorder (ASD) can propagate by means of transcriptional regulation to affect convergently dysregulated pathways, providing insight into the convergent impact of ASD genetic risk on human neurodevelopment.

Activity-based protein profiling identifies covalent small molecules that potentiate the activity of the METTL5:TRMT112 complex through binding to a complexoform-restricted allosteric pocket absent in other TRMT112:methyltransferase complexes

Variation in responses to bacterial and viral stimuli between Batwa rainforest hunter-gatherers and Bakiga agriculturalists from Uganda suggests population-level divergence under natural selection, with hunter-gatherers disproportionately showing signatures of positive selection.

A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

Here the authors show DNGR-1 expressed by cDC1s promotes CD8⁺ T cell priming to cytoskeletal neoantigens from dying tumor cells, thereby shaping cancer immune visibility and tumor evolution through immunoediting.

The authors estimate genomic vulnerability for closely related species of rainbowfish. They find that narrow endemic species that have hybridized with a warm-adapted generalist show reduced vulnerability to climate change and that hybridization may facilitate evolutionary rescue for such species.

Here, the authors show that brain dynamics mature from childhood to adulthood with increased hierarchical propagation and reduced visual-somatomotor dynamics. Top-down hierarchical flow strengthens throughout this developmental period.

Optically active spin defects in diamond and hBN are promising solid-state quantum sensors but often fall short for chemical sensing. Here the authors show that BN nanotubes hosting such defects create a nanoporous, omnidirectional quantum “mesh” sensor at room temperature, enhancing chemical detection through high surface area and improved sample accessibility.

The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 cancer whole genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

Analysis combining multiple global tree databases reveals that whether a location is invaded by non-native tree species depends on anthropogenic factors, but the severity of the invasion depends on the native species diversity.

The interaction between single spins and mechanical motion has been demonstrated in solid-state platforms, though limited to low-frequency modes. Here, the authors realize the coupling between an electron spin in a double quantum dot and a high-frequency mechanical mode in a suspended carbon nanotube device.

Monitoring the activity of nuclear reactors requires measuring the neutron distribution in the core efficiently and in real time. Here, the authors present an imaging approach for neutrons and gamma-rays that thanks to a slit-pupil-like design, enables radiations to be visualized directly in operative reactors.

Analyses of 2,658 whole genomes across 38 types of cancer identify the contribution of non-coding point mutations and structural variants to driving cancer.

A plasma lens capable of focusing broadband extreme-ultraviolet attosecond pulses is demonstrated.

iGluSnFR4f and iGluSnFR4s are the latest generation of genetically encoded glutamate sensors. They are advantageous for detecting rapid dynamics and large population activity, respectively, as demonstrated in a variety of applications in the mouse brain.

Royer and colleagues find a principal dimension of neural dynamic similarity dissociating unimodal and association cortices. Systematic variations in local and macroscale constraints across the cortex also followed this pattern.

Genomic analyses applied to 14 childhood- and adult-onset psychiatric disorders identifies five underlying genomic factors that explain the majority of the genetic variance of the individual disorders.

The activity of the membrane-bound enzyme pMMO depends on copper but the location of the copper centers is still under debate. Here, the authors reconstitute pMMO in nanodiscs and use native top-down MS to localize its copper centers, providing insights into which sites are essential for activity.

Here the authors develop a blood-based proteomic Smoking Index (pSIN) that accurately detects smoking exposure and predicts the risk of mortality and 18 major diseases, offering a molecular measure of smoking-related biological damage and recovery.

Understanding deregulation of biological pathways in cancer can provide insight into disease etiology and potential therapies. Here, as part of the PanCancer Analysis of Whole Genomes (PCAWG) consortium, the authors present pathway and network analysis of 2583 whole cancer genomes from 27 tumour types.

Antimicrobial resistance poses a significant global health threat, necessitating swift and precise diagnostic solutions. Here, the authors introduce a culture-free diagnostic platform integrating microfluidic cell enrichment, single-cell Raman spectroscopy, and deep learning, that identifies bacterial and fungal infections directly from clinical samples within 20 minutes.

The existing ENCODE registry of candidate human and mouse cis-regulatory elements is expanded with the addition of new ENCODE data, integrating new functional data as well as new cell and tissue types.

High-dimensional immune profiling of a living recipient of a pig-to-human xenotransplant provides insight into the immune landscape of xenotransplantation and directions for improved immunosuppression strategies.

Genome-wide association studies (GWAS) of deep learning-derived measurements of aortic valve function, along with multitrait analyses incorporating disease-based GWAS, identify 166 genetic loci associated with aortic valve function or aortic stenosis.

Integrative analyses of transcriptome and whole-genome sequencing data for 1,188 tumours across 27 types of cancer are used to provide a comprehensive catalogue of RNA-level alterations in cancer.

Radical chain initiation strategies are fundamental to the synthesis of small molecule drugs and macromolecular materials. Here a general, thermally driven and scalable method for reductive initiation is reported, in which inexpensive azo initiators are reacted with formate salts to form a carbon dioxide radical anion.

A three-dimensional (3D) nanofabrication platform based on metalens-generated focal spot arrays is introduced to parallelize two-photon lithography beyond centimetre-scale write field areas, revealing the potential of 3D nanolithography towards wafer-scale production.

Genome assemblies of 100 cultivated and seven semi-wild Gossypium hirsutum accessions provide insights into the evolutionary history of upland cotton and the genetic basis of fiber trait variation.

With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes project, the authors explore the concordance of mutations called by whole exome sequencing and whole genome sequencing techniques.

An exploratory analysis of the phase 3 ECOSPOR III trial shows that a higher dosage of the oral microbiome therapeutic VOWST led to enhanced pharmacokinetics, increased species engraftment and altered microbiome and metabolite profiles, providing mechanistic insights into how it may prevent Clostridioides difficile infection recurrence.

Rotors are widespread in nature, but the collective behavior of heterogeneous populations remains poorly understood. Authors demonstrate that oppositely spinning rotors spontaneously self-assemble into active chains called gyromers, stabilized purely by fluid and steric interactions.

The study by Russo et al. demonstrates alterations in the presence of senescence hallmarks across cell types, inducers, and model systems. These findings spotlight TFAP4 as a key regulator of senescence phenotypes in aging and Parkinson’s Disease.

Mapping of the neutrophil compartment using single-cell transcriptional data from multiple physiological and patological states reveals its organizational architecture and how cell state dynamics and trajectories vary during health, inflammation and cancer.

A high-bandwidth neuromotor interface offers performant out-of-the-box generalization across people.

Water window imaging with high-harmonic generation is achieved using soft X-ray coherence tomography (SXCT), revealing the cross-sectional structure of buried nanolayers with 12 nm axial resolution.

Here, by integrating faecal metabolomics, metagenomics, and habitual dietary data of two large human cohorts, the authors show that faecal metabolites reflect diet and gut microbiome interactions, predict dietary patterns, and indicate cardiovascular risk, offering insights for diet-based health interventions.