Search

Global Burden of Disease analysis found that in 2023, suboptimal diet was estimated to be responsible for 4 million deaths and 97 million morbidity burdens from ischemic heart disease.

Peters anomaly type II arises from failed lens vesicle separation. Here, the authors show that ABL kinases counterbalance FGF–RAS signaling via a PTPN12–p130CAS pathway to regulate cytoskeletal tension, ensuring proper lens detachment during development.

The authors report that Ta-doped PbTiO₃ films with a p-i-n structure can generate a high photovoltaic current, offering the opportunity to advanced optoelectronic and imaging devices.

l-2-Hydroxyglutarate is identified as a legitimate physiological signalling metabolite, and control of its levels is essential for postnatal growth and survival and correct renal development and function.

A mesoscopic fluorescence imaging platform incorporating a double-helix phase mask enables realtime 3D mapping of cerebrovascular networks and blood flow dynamics in the living mouse brain under healthy conditions and in glioma.

There’s an emerging body of evidence to show how biological sex impacts cancer incidence, treatment and underlying biology. Here, using a large pan-cancer dataset, the authors further highlight how sex differences shape the cancer genome.

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

Multi-omics datasets pose major challenges to data interpretation and hypothesis generation owing to their high-dimensional molecular profiles. Here, the authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery.

Kancharla, Kelly et al. identify an acridone antimalarial potent across all major parasite life stages. Lead candidate T111 shows oral efficacy, low toxicity, and synergy with tafenoquine, providing a unique mechanism to overcome resistance.

Topological phase transitions between two distinct Weyl topological states have thus far proven difficult to find. Here, using a combination of neutron diffraction, transport measurement and first principles calculations, Yang et al show that a magneto-structural transition in the kagome magnet Mn₃Ga exhibits such a topological phase transition.

Analysis of cancer genome sequencing data has enabled the discovery of driver mutations. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium the authors present DriverPower, a software package that identifies coding and non-coding driver mutations within cancer whole genomes via consideration of mutational burden and functional impact evidence.

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 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.

Glaucoma is a common cause of vision loss. Here the authors show that elevated intraocular pressure disrupts the blood retinal barrier (BRB) and contributes to retinal ganglion cell death in mouse glaucoma models, and detect similar BRB disruption in human glaucoma donor eyes.

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.

This study found COVID-19 vaccination offers added protection against reinfection in children and adolescents with prior infection but variable effectiveness across variants. Findings support vaccination benefits beyond infection-acquired immunity.

Integration of data representing 35,120 brain scans from diverse global studies enables construction of reference charts that define normative microstructural and macrostructural properties across the human lifespan for research and clinical diagnosis.

AlphaFold’s success in protein structure predictions has led to similar attempts to predict interactomes. Here, the authors demonstrate that AI-based screens are very limited in discovering truly novel interactions compared to experimental screens, exposing open challenges in interaction prediction.

In somatic cells the mechanisms maintaining the chromosome ends are normally inactivated; however, cancer cells can re-activate these pathways to support continuous growth. Here, the authors characterize the telomeric landscapes across tumour types and identify genomic alterations associated with different telomere maintenance mechanisms.

Using data from 96 million mobile phone users across 11 cities in China, this analysis sheds light on the trade-off between spatial proximity and hospital quality in patterns of healthcare utilization, showing that 80.63% of patients bypass their nearest hospital with 211.84% increased travel distance.

Evaluated across 18 multicancer cohorts, the agentic artificial intelligence workflow SPARK uses language as a universal interface to autonomously generate biological ideas.

Symmetry rules usually prevent interactions between distinct vibrational modes. Now it is shown that charge order fluctuations can mix modes, enhancing the chiral lattice response in a ferroaxial electronic crystal.

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

Peritoneal metastasis of ovarian cancer is often accompanied by the accumulation of ascitic fluid. Here, the authors find that ascites protects ovarian cancer cells against ferroptosis, thus enabling their spread in the peritoneum.

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.

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.

Decreased brain volumes and increased NfL levels can be observed earlier than disease diagnosis in short-tandem-repeat-associated neurological diseases.

The operational stability of perovskite solar cells remains a challenge. Zhang et al. incorporate photoswitchable isomers at grain boundaries to improve their resilience and the stability of the solar cells under light cycling and ultraviolet exposure.

Genome-wide analyses identify genetic loci and plasma proteins associated with polycystic ovary syndrome (PCOS). This study highlights the hormonal and metabolic foundations of the disease and explores the impact of polygenic risk for PCOS in both sexes.

The authors have applied an eight-tissue rat multi-omic dataset to analyze the gene regulatory landscape of endurance exercise training, identifying tissue-specific regulatory patterns involved in muscle function, metabolism and immune response.

ATF6α activation in human and preclinical models of hepatocellular carcinoma is significantly associated with an aggressive tumour phenotype characterized by reduced survival, glycolytic reprogramming and local immunosuppression.

A transient grey matter microgliosis is required for remyelination, the failure of which results in a chronic neuroinflammatory state seen in neurodegenerative disorders.

Protein motion in crowded environments governs cellular transport and reaction rates. Here, the authors use megahertz X-ray Photon Correlation Spectroscopy to reveal anomalous diffusion of ferritin, linking hydrodynamic and direct interactions to cage-trapping at microsecond time scales.

New research introduces a global, high-resolution power system model to show that achieving a net-zero electricity sector while ensuring equitable access to decent living standards is both technically feasible and economically viable by mid-century.

A large-scale study on the replicability of claims from social and behavioural science journals reports that about half of the results replicate in the same patterns as the original study.

Functional studies of O-GlcNAcylation have often focused on individual modifications. Now, a systems-level approach has identified simultaneous O-GlcNAcylation events that coordinate cellular activities and tissue-specific functions.

CASP5 expression is restricted to the human intestinal epithelium, and the CASP5C isoform has a key role in promoting Wnt signalling, which is required for epithelial homeostasis, through binding to dishevelled and cleavage of APC to regulate β-catenin turnover.

An analysis of 2,954 genomes from 38 cancer subtypes identified 19,166 retrotransposition events in 35% of samples. Aberrant LINE-1 retrotranspositions can lead to the deletion of tumor-suppressor genes as well as the amplification of oncogenes.

Whole-genome sequencing data for 2,778 cancer samples from 2,658 unique donors across 38 cancer types is used to reconstruct the evolutionary history of cancer, revealing that driver mutations can precede diagnosis by several years to decades.

The characterization of 4,645 whole-genome and 19,184 exome sequences, covering most types of cancer, identifies 81 single-base substitution, doublet-base substitution and small-insertion-and-deletion mutational signatures, providing a systematic overview of the mutational processes that contribute to cancer development.

Androgen activity in the male embryonic hindbrain prolongs hindbrain differentiation in male individuals and drives sex differences in the incidence and prognosis of posterior fossa type A (PFA) ependymoma, an aggressive childhood brain tumour.

In this study the authors consider the structural variants (SVs) present within cancer cases of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. They report hundreds of genes, including known cancer-associated genes for which the nearby presence of a SV breakpoint is associated with altered expression.

Femtosecond X-ray solution scattering reveals how solvent environments direct the outcome of ultrafast roaming reactions in bromoform, determining whether transient hot isomers undergo rapid solvolysis or rearrange into long-lived isomeric products.

Viral pathogen load in cancer genomes is estimated through analysis of sequencing data from 2,656 tumors across 35 cancer types using multiple pathogen-detection pipelines, identifying viruses in 382 genomic and 68 transcriptome datasets.

The cellular origin and developmental trajectory of DICER1 syndrome-associated tumors are currently unknown. Here, the authors employ a lineage-traceable genetically modified mouse model for DICER1 syndrome to identify universal fibroblasts as the likely cellular origin of mouse Dicer1 sarcoma and map their developmental trajectory, findings that are validated in human DICER1 mesenchymal tumors.

Some cancer patients first present with metastases where the location of the primary is unidentified; these are difficult to treat. In this study, using machine learning, the authors develop a method to determine the tissue of origin of a cancer based on whole sequencing data.

Robustness checks and reproduction of analyses with existing and updated data based on 110 articles in economics and political science journals with data and code-sharing requirements found high levels of robustness and reproducibility and determined that robustness was not dependent on author characteristics or data availability.

Cancers evolve as they progress under differing selective pressures. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, the authors present the method TrackSig the estimates evolutionary trajectories of somatic mutational processes from single bulk tumour data.

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.