Search

Using multi-ancestry genome-wide association study and fine-mapping, 298 loci and 36 credible genes are identified in the aetiology of bipolar disorder.

In this study, the authors present an analysis of 247 full-genome SARS-CoV-2 sequences obtained from two communities in Wisconsin, USA, and report distinct patterns of viral spread. Their results suggest that patterns of SARS-CoV-2 transmission and spread may vary substantially, even between neighbouring communities.

A large-scale genetic analysis of type 1 diabetes identifies new susceptibility variants, highlights potential regulatory mechanisms and provides genetic support for therapeutic targets for immune intervention.

A high-resolution reference panel based on whole-genome sequencing data enables accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response.

Magnetic vortices in nanodiscs possess potential applications based on their magnetic configuration and spin-torque-driven oscillation. Here, Sluka et al. show how the coupled gyration of two stacked vortices is split into discretized frequencies defined by their relative chirality and polarity.

A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

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.

Trans-ancestry meta-analysis of estimated glomerular filtration rate (eGFR) from 1,046,070 individuals identifies 264 associated loci, providing a resource of molecular targets for translational research of chronic kidney disease.

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.

A computational model called Centaur, developed by fine-tuning a language model on a huge dataset called Psych-101, can predict and simulate human nature in experiments expressible in natural language, even in previously unseen situations.

Dominic Kwiatkowski and colleagues of the MalariaGEN and the WTCCC consortiums report a genome-wide analysis of severe malaria in The Gambia. They provide guidance for design of GWAS in African populations, and demonstrate the usefulness of multipoint imputation based on population-specific sequencing data.

NextBrain is an open source, probabilistic atlas of the entire human brain, assembled using artificial-intelligence-enabled registration and segmentation methods to reconstruct the multimodal serial histology of five human half brains, and which can be used to automatically segment brain MRI scans into 333 regions.

A hierarchical cross-entropy loss is presented, which incorporates ontology structure into training and improves the out-of-distribution performance of large-scale single-cell annotation models without additional computational cost.

Head and neck squamous cell carcinoma (HNSCC) frequency and risk factors vary considerably across regions and ancestries. Here, the authors conduct a multi-ancestry genome-wide association study and fine mapping study of HNSCC subsites in cohorts from multiple continents, finding susceptibility and protective loci, gene-environment interactions, and gene variants related to immune response.

Pretrained using over 33 million single-cell RNA-sequencing profiles, scGPT is a foundation model facilitating a broad spectrum of downstream single-cell analysis tasks by transfer learning.

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.

Inspired by dynamic textural modulation in cephalopod skin, polymer films whose colour and surface texture can be dynamically and independently controlled are developed and demonstrated using standard electron-beam patterning tools.

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).

Hyperpolarization methods play a crucial role in the in vivo observation of molecular metabolism by MRI techniques. Here, the authors develop NHC-containing iridium complexes which improve the NMR detectability of ¹H, ¹³C and ¹⁵N nuclei via transfer of latent magnetism of para-hydrogen into a substrate.

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Understanding biodiversity loss and achieving global commitments requires effective biodiversity monitoring. This Roadmap outlines the necessary steps to achieve a transnational European Biodiversity Observation Network built around Essential Biodiversity Variables, combining targeted sensing methods, spatial design, data sharing, data integration and modelling workflows, and coordinated governance to deliver policy-ready insights.

A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

Single-cell generative pretrained transformer is a foundation model based on a transformer architecture for cell-type classification. This protocol enables fine-tuning single-cell generative pretrained transformer for efficient handling of single-cell RNA sequencing data and improving annotation accuracy using retinal cells as working example.

A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

The epitaxial growth of hyperdoped Ga:Ge films and trilayer heterostructures by molecular-beam epitaxy yield superconductivity with a critical temperature of 3.5 K and may enable quantum functionalities in this material system, which is accessible with well-established semiconductor technologies.

Gel electrophoresis image analysis still largely relies on manual or semi-automatic tools, limiting both efficiency and reproducibility. Here, authors introduce GelGenie, an AI-driven open-source platform that rapidly detects gel bands under various conditions.

WGS data were used from 347,630 individuals with European ancestry in the UK Biobank to obtain high-precision estimates of coding and non-coding rare variant heritability for 34 complex traits and diseases.

Core excitons are strongly localised excitonic states impacting x-ray absorption and resonant inelastic scattering (RIXS) spectra. Here, the authors demonstrate an application of free electron laser-driven ultrafast RIXS spectroscopy to study previously unclear aspects of core exciton-phonon interactions in graphite.

u-Segment3D is a universal framework that translates and enhances 2D instance segmentations to a 3D consensus instance segmentation without training data. It performs well across diverse datasets, including cells with complex morphologies.

Radiation reaction (RR) on particles in strong fields is the subject of intense experimental research, but previous efforts lacked statistical significance due to the extreme regimes required. Here, the authors report a 5σ observation of RR and obtain strong, quantitative evidence favouring quantum models over classical, using an all-optical setup where electrons are accelerated by a laser in a gas jet before colliding with a second, intense pulse.

Bruijns et al. present a modeling tool that enables the tracking of learning dynamics across subjects to reveal how behaviors emerge and adapt. Applying the tool to a decision-making task in mice uncovers similarities and differences across individuals.

Fine-mapping and functional studies highlight potential causal risk variants for rheumatoid arthritis and type 1 diabetes, including missense variants at DNASE1L3, PTPN22, SH2B3, and TYK2, and noncoding variants at MEG3, CD28–CTLA4, and IL2RA.

Using synthesized experimental and observational data, Cen et al. revealed that anthropogenic nitrogen deposition has increased global forest soil CO₂ emissions by ~5%, despite considerable spatial variation in the effects of nitrogen deposition.

Makwana, Tilley et al. generate human stem cell-based trunk-like structures approximating Carnegie stage 13–14 of development. They use them to model and study the development of the thoracic and lumbar trunk.

Understanding phylogenetic relationships among species is key to studying evolutionary transitions, but the growing scale of sequence data poses challenges for current methods. This study presents PhyloTune, a fine-tuning approach using DNA language models to enable efficient phylogenetic updates.

Peter Donnelly and colleagues report fine mapping of 14 susceptibility loci in 8,000 cases and controls for type 2 diabetes, coronary artery disease and Graves' disease. They apply a new Bayesian method for analysis of fine-mapping data sets, using this to define sets of SNPs likely to contain causal disease-associated variants.

Systems of electron spins in nuclear-spin-rich hosts are gaining attention for quantum memory applications. Using spin ensemble studies, the authors propose transition metal ions in halide double perovskites as promising candidates, featuring long electron spin coherence and deterministic nuclear spin control.

Wastewater-based surveillance tends to focus on specific pathogens. Here, the authors mapped the wastewater virome from 62 cities worldwide to identify over 2,500 viruses, revealing city-specific virome fingerprints and showing that wastewater metagenomics enables early detection of emerging viruses.

Femtosecond pulses from X-ray free-electron lasers offer a powerful method for studying charged collective excitations in materials, and provide a potential route to identifying bosonic quasiparticles in condensed-matter systems.

Here the authors identify hundreds of genetic loci linked to 36 traits in East Asians, revealing population-specific associations and emphasizing the importance of diverse ancestry groups in genome-wide association studies.

Melanoma staging in early stage cutaneous melanoma currently excludes relevant pathology features. Here the authors develop MelanoMAP to integrate pathology images and clinical data to predict melanoma spread.

Trained on large and multicenter datasets with different imaging modalities, a foundation model is shown to have strong performance on the full spectrum of clinically relevant tasks and to increase user accuracy in diagnostic tasks.

Allele-preferential transcription factor binding can influence pancreatic ductal adenocarcinoma risk loci function. Here, the authors show allele-specific JunB and JunD binding at chr1p36.33 and propose a role for KLHL17 in protein homeostasis by mitigating inflammation.

Andrew Morris, Mark McCarthy, Michael Boehnke and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes, including 26,488 cases and 83,964 controls from populations of European, east Asian, south Asian and Mexican and Mexican American ancestry. They identify seven loci newly associated with type 2 diabetes and examine the genetic architecture of disease across populations.