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A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.

The spatial and temporal control of material properties at a distance have been so far achieved with light, heat, or sound. Here, the authors control chemical reactions and further polymerization of composites with an electric field via inverse piezo-effect resulting in multi-stiffness gels.

Electrolytic hydrogen can play a role in the power sector by 2030 if its use is accompanied by a break-even abatement cost and if electricity market dispatch rules shift from minimizing costs to prioritizing emissions reductions.

A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.

A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.

This study demonstrates GHz-speed electro-optic modulation using ferroelectric nematic liquid crystals, offering dual-phase shifting, poling-free operation, low loss, and CMOS compatibility-enabling scalable hybrid silicon-organic photonics.

The precision of determining the phase of an optical atomic clock is increased above the standard quantum limit in a new spectroscopic method.

Limited diagnostic capacity for asymptomatic individuals hinders malaria elimination efforts in Africa. Here, the authors present a near point-of-care method based on colorimetric LAMP detection that outperforms expert microscopy and commercial rapid diagnostic tests for Plasmodium detection in asymptomatic and submicroscopic individuals.

Native state proteomics of PV interneurons revealed unique molecular features of high translational and metabolic activity, and enrichment of Alzheimer’s risk genes. Early amyloid pathology exerted unique effects on mitochondria, mTOR signaling and neurotransmission in PV neurons.

The Zika viral protease NS2B-NS3 is a crucial target for antiviral drug development due to its role in processing viral polyproteins. Here, the authors utilize crystallographic fragment screening and deep mutational scanning to identify binding sites for resistance-resilient inhibitors.

Hypertrophic cardiomyopathy-causing mutations in cardiac myosin disrupt its auto-inhibited OFF state, leading to hypercontractility. Here, the authors show that disease-linked mutations remote from intramolecular OFF state interfaces can allosterically impair myosin autoinhibition

Our understanding of variation in monocyte context-specific splicing and transcript usage is limited. Here, the authors find genetic variants that affect gene splicing in monocytes in specific contexts, including several diseases, and in response to stimulants.

Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse populations.

Both environmental factors and genetic factors influence human immunity. Albert and colleagues leverage data from the Milieu Intérieur Consortium to comprehensively describe the effects of lifestyle, environment and genetics on human innate and adaptive immunity.

Lineage tracing in mice identifies a subpopulation of basal cells that express Tmprss2 and Nkx3 as the origin of ERG-driven prostate cancer. Upon expansion, these cells show an enrichment for STAT3 chromatin binding and elevated expression of KMT2A and DOT1L as dependencies for ERG oncogenicity.

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.

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.

In a prospective study enrolling 1,222 patients from 22 emergency departments, a device using a machine-learning-based signature of blood mRNAs demonstrated clinically acceptable performance to diagnose bacterial and viral infections and to predict the all-cause need for critical care interventions within 7 days, with benchmark to established biomarkers and risk scores.

In this Stage 2 Registered Report, Buchanan et al. show evidence confirming the phenomenon of semantic priming across speakers of 19 diverse languages.

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.

The International Brain Laboratory presents a brain-wide electrophysiological map obtained from pooling data from 12 laboratories that performed the same standardized perceptual decision-making task in mice.

The major ion chemistry of a North American river shows decreased lateral carbon transport due to exacerbated secondary carbonate formation and CO₂ evasion, according to analyses conducted during a 195-day drought.

This study explores the relationship between telomere length and clonal hematopoiesis. Splicing factor and PPM1D gene mutations are more frequent in people with genetically predicted shorter telomere lengths, suggesting that these mutations protect against the consequences of telomere attrition.

Available wheat genomes are annotated by projecting Chinese Spring gene models across the new assemblies. Here, the authors generate de novo gene annotations for the 9 wheat genomes, identify core and dispensable transcriptome, and reveal conservation and divergence of gene expression balance across homoeologous subgenomes.

Here, the authors provide molecular insight into the remarkable ability of Tardigrades to withstand high levels of radiation by demonstrating that their Dsup protein interacts with multiple surfaces of the nucleosome to protect the genome from oxidative DNA damage.

The identification of cellular targets for natural products that potently inhibit the growth of cancer cell lines implicates oxysterol-binding proteins in the growth of cancer cells. These natural products, termed ORPphilins, also affect sphingomyelin biosynthesis.

Gold nanostructures have shape-dependent properties, making synthetic control over their morphology critical. Here, the authors use dynamic compression to obtain a variety of gold nanoarchitectures, which are formed at very fast timescales by the controlled coalescence of spherical particle arrays.

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.

Despite observed routinely from spacecrafts landing on, e.g., lunar soil, the origin of radial streak patterns has been unclear up to now. Here, the authors report an experimental study of such instabilities in the coupled dynamics of rocket plumes and sand surfaces.

Accurate, spatiotemporally resolved monitoring of environments and ecosystems serves as the starting point to both identify and remedy natural or anthropogenic environmental hazards. This Review covers materials science advances supporting a new paradigm in environmental sensing: distributed networks of sensing elements capable of system-level profiling with the possibility of harmless environmental resorption after a predetermined recording period.

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.

Monitoring T cell metabolism during chimeric antigen receptor T manufacturing using optical metabolic imaging enables fine-tuning of manufacturing conditions to increase T cell yield and fitness.

Sequencing analysis of tamoxifen-associated uterine cancers and further in vivo analyses suggest that the drug tamoxifen can activate the PI3K pathway in the absence of oncogenic mutations.

Photoconversion in organic photovoltaic cells, which relies on charge generation at donor/acceptor interfaces, is limited by short exciton-diffusion-lengths. Diluting an electron donor into a wide-energy-gap host material has now led to an ~50% increase in exciton diffusion length and enhanced power conversion efficiencies in planar heterojunction cells compared with optimized devices with an undiluted donor layer.

Previous research shows surprising rewards drive learning. Here, the authors show that affective error signals (emotional surprise) independently promote learning, and are associated with neural signals separable from reward error signals.

Here the authors report a low-cost method to fabricate flexible Ag2Se thermoelectric films with high performance and durability, enabling efficient energy harvesting and cooling in wearable and portable thermoelectric devices.

An expert-elicitation process identifies current methodological barriers for monitoring terrestrial biodiversity, and how technological and procedural development of robotic and autonomous systems may contribute to overcoming these challenges.

This study shows that epigenetic gene body DNA methylation regulates transcription and accounts for much of its variance in the Arabidopsis population, efficiently identifies genes regulating diverse traits and may facilitate local adaptation.

Persisting symptoms after concussion (PSaC) present a complex neuropsychiatric challenge with limited treatment options due to inconsistent neuroimaging findings. Here the authors employ a multi-analytic approach to identify the salience network as a core dysfunction hub in PSaC, proposing specific cortical regions as potential targets for personalized neuromodulation therapies.

The number of individuals in a given space influences animal interactions and network dynamics. Here the authors identify general rules underlying density dependence in animal networks and reveal some fundamental differences between spatial and social dynamics.

The authors present SVclone, a computational method for inferring the cancer cell fraction of structural variants from whole-genome sequencing data.

Dual cyclin A/B RxL inhibitors selectively kill small cell lung cancer cells and other cancer cells with high E2F activity.

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Large language models have been rapidly adopted in general and clinically; they could also be incorporated into medical education. Results of a recent study suggest that a combination of traditional learning methods and large language model use could improve learning outcomes for medical students.

A mass spectrometry-based approach globally identifies protein regulators of metabolism and reveals the role of LRRC58 in controlling cysteine catabolism.

The regulatory landscape controlling Hoxd gene expression in tetrapod digit development was probably co-opted from a pre-existing cloacal regulatory mechanism, as evidenced by the effects of genetic deletion experiments in zebrafish fin, cloaca and mouse urogenital development.

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

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