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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.

The authors employ a 3D printing technique to induce a triple-twinned martensitic microstructure in a commercial titanium alloy, achieving both high strength and enhanced strain hardening.

Electrochemical amine regeneration offers a renewable, low-temperature pathway for CO₂ capture. Here, the authors reveal how anions regulate interfacial copper redox kinetics that control electrochemical CO₂ release using in-situ spectroscopic and computational analyses.

The interplay between the chromatin landscape and plant domestication remains unclear. Here, the authors report the genome assembly and chromatin landscape map of amaranth and reveal the association between domestication and species-specific changes in chromatin accessibility, with a bias toward opening chromatin regions.

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.

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.

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.

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.

As presented at the ESMO Congress 2025: Results of the phase 2/3 AGITG DYNAMIC-III trial show that de-escalated chemotherapy based on ctDNA-negative status in patients with stage III colon cancer did not meet non-inferiority for 3-year recurrence-free survival when compared to standard of care, although it enables better informed treatment decisions.

SARS-CoV-2 persistence in IL2rg-deficient hamsters shows sustained replication, tissue dissemination, and dynamic intra-host evolution, establishing a model to define mechanisms driving long-term infection and its effects.

The phase 3 STEER trial showed that a single intrathecal dose of onasemnogene abeparvovec significantly improved motor function in children and adolescents with spinal muscular atrophy versus sham, with a similar and acceptable safety profile.

Here the authors use a genome-wide approach to identify genetic variants associated with RNA isoform variation, uncovering new links between transcriptional regulation and complex traits. The findings can advance understanding of disease mechanisms.

Adding tunable photon-photon nonlinearities to programmable photonic circuits would greatly extend their capabilities. Here, the authors demonstrate this by embedding a photonic-crystal waveguide nanostructure hosting an InAs quantum dot within a programmable linear optical circuit, and using it to realise a proof-of-concept quantum simulation of anharmonic molecular vibrational dynamics.

Adipocyte deposition is believed to be a primary characteristic of age-related thymic involution. Here, the authors show that MRAP is a key factor in promoting thymic MSCs adipogenesis triggered by thymosin-α1 and FoxO1 pathway, which provide a new mechanism for age-related thymic involution

Here, the authors report an exome-wide association study for multi-organ imaging traits by leveraging recent bioinformatic tools such as AlphaMissense. The identified signals elucidate the genetic effects from rare variants on human organs and their connections to complex diseases

Chronic care manages long-term, progressive conditions, while acute care handles short-term ones. Here, authors show chronic conditions account for most of the global health burden, with 68% of DALYs and 93% of YLDs attributed to chronic care needs.

Here, the authors show that methylphenidate alters brain organization by compressing the hierarchy between sensory and association areas. This dopamine-driven shift predicts improved attention, revealing how stimulants reorganize brain networks to enhance cognitive function.

The advantage of living in cities compared with rural areas with respect to height and BMI in children and adolescents has generally become smaller globally from 1990 to 2020, except in sub-Saharan Africa.

A trans-ancestry meta-analysis of GWAS of glycemic traits in up to 281,416 individuals identifies 99 novel loci, of which one quarter was found due to the multi-ancestry approach, which also improves fine-mapping of credible variant sets.

Many tumours exhibit hypoxia (low oxygen) and hypoxic tumours often respond poorly to therapy. Here, the authors quantify hypoxia in 1188 tumours from 27 cancer types, showing elevated hypoxia links to increased mutational load, directing evolutionary trajectories.

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.

The authors create a distributed sensor array that achieves optical super-resolution without lenses, using computational synchronization to combine multiple sensors and expand imaging areas 16-fold beyond physical sensor dimensions.

Drug-resistant bacterial infections hinder tissue repair and regeneration. Here, authors present a lysozyme nanofibril-based hydrogel that mimics neutrophil extracellular traps, enabling pathogen elimination and promoting tissue regeneration.

BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to provide evidence of variant pathogenicity.

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.

NBCn1 plays an important role as a base loader allowing breast cancer cells to survive in an acidic environment. Here, Wang et al report its near atomic structure and transport cycle involving minimal structural changes associated with an exceptionally high turnover rate, enabling efficient cellular base loading and tumor survival

Toughness and stiffness in polymer gels are generally coupled to the network structure and composition. Now it has been shown that stress-selective mechanophore junctions—tetrafunctional cyclobutanes (TCBs)—with minor structural modifications can tune these properties independently in end-linked gels. TCBs increase or decrease toughness by remodelling network topology at the crack tip.

The intestinal microbiome is shaped by genetics and environment. Here, the authors show in rats that host genetic effects, including indirect social effects, influence microbiome composition, identify replicated loci, and reveal mechanisms contributing to microbiome heritability.

The authors present DNA-Diffusion, a generative AI framework that designs synthetic regulatory elements with tunable cell-type specificity. Experimental validation demonstrates their ability to reactivate AXIN2 expression, a leukemia-protective gene, in its native genomic context.

The authors uncover a direct, BAI1-dependent, role for C1q in the control of neural stem cell proliferation and quiescence via MDM2–p53 and p32, a complement cascade-independent mechanism of C1q action that has implications for central nervous system health and disease.

An intestinal organoid model recapitulates human microfold (M) cell function and transcriptomic profiling and biochemical assays demonstrate that M cells uptake and present antigens to the immune system via the class II major histocompatibility complex.

The authors theoretically delineate the maximal increases in tree growth that can be expected from increases in plant intrinsic water-use efficiency, which increases with rising CO₂. They highlight environmental and physiological limits on growth in the context of experimental data.

Longitudinal cerebrospinal fluid proteomics in multiple sclerosis uncovers dynamic antiviral immune activity, sex-based differences in damage and repair, and evolving myeloid-stromal cell interactions that correlate with disability development.

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.

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

The authors use multi-slice ptychography to reconstruct depth-resolved phase contrast images of a non-superconducting infinite-layer nickelate superlattice, 8NdNiO₂/2SrTiO₃. The results highlight the presence of disordered residual oxygen and suggest the formation of local domains with varying degrees of oxygenation.

DNA methylation and copy number variant analyses across a large number of genetic mouse models of pediatric brain tumors reveal subtype-specific molecular alterations shared with the corresponding human diseases.

Living plant collections hold an immense wealth of plant diversity and have critical educational, scientific and conservation roles. This Perspective examines current data management practices of living collections and advocates for higher data standards and a robust and inclusive global data ecosystem.

The skin regulatory T cells (Tregs) accumulate within the first two weeks after birth. Here the authors show that Tregs are essential for establishing skin pigmentation in newborns by modulating a molecular pathway in hair follicles, linking immune regulation to pigmentation development.

Federated learning (FL) algorithms have emerged as a promising solution to train models for healthcare imaging across institutions while preserving privacy. Here, the authors describe the Federated Tumor Segmentation (FeTS) challenge for the decentralised benchmarking of FL algorithms and evaluation of Healthcare AI algorithm generalizability in real-world cancer imaging datasets.

Polygenic risk scores can help identify individuals at higher risk of type 2 diabetes. Here, the authors characterise a multi-ancestry score across nearly 900,000 people, showing that its predictive value depends on demographic and clinical context and extends to related traits and complications.

Photonic processors are limited by the bulkiness of discrete components and wiring complexity. An experiment now demonstrates a reprogrammable two-dimensional waveguide that performs neural network inference through multimode wave propagation.

During SARS-CoV-2 infection caspase-8 fuels harmful inflammation independent of apoptosis. Genetic loss of caspase-8 reduces cytokine levels, lowers viral load and mitigates disease severity, revealing non-apoptotic caspase-8 as a key driver of severe COVID-19.

Aligning electrocorticography data into a shared space improves how large language models predict brain activity during language comprehension, enhancing encoding accuracy, cross-participant generalization and denoising—especially in language-selective regions.

Clear cell renal cell carcinoma (ccRCC) usually metastasizes to the lungs. Here, the authors discover that SWI/SNF ATPase subunit SMARCA4 silencing of HLF regulates ccRCC lung metastasis by modulating the integration of collagen's mechanical cues with the actin cytoskeleton through leupaxin.

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

During chronic but not acute inflammation, chromatin remodelling is influenced by nuclear autophagy through WSTF interaction with ATG8 in the nucleus, leading to WSTF nuclear export and its subsequent degradation.