Search

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.

Genome-wide association analyses of intracranial and nine subcortical brain volumes in 74,898 participants of European ancestry identify 254 independent loci and yield polygenic scores accounting for brain variation across ancestries.

In this study, the authors report a potent neutralizing antibody targeting a conserved epitope within RSV pre-F that shows higher antiviral activity against both RSV-A and -B subgroups in vitro and in small animal models than FDA-approved prophylactic agents.

This Article presents a single-molecule ‘synthesis by sensing’ approach that enables in situ stepwise generation of stereo- and regio-defined heteromeric nanopores to resolve structural and chiral differences of amino-acids in single peptide stereoisomers.

C4 photosynthesis serves as a prominent example of convergent evolution in complex traits. Here, the authors construct chromosome-scale genome assemblies for five Flaveria species and investigate the genomic evolution of C4 photosynthesis. Their findings emphasize the roles of retrotransposition and transcriptional regulation in shaping C4 traits.

Understanding the role of GPX4 in cell ferroptosis at the interface of the inner cortex and medulla is crucial in the context of renal injury. Here, the authors demonstrate that the OTUD5 interaction with GPX4 is key in resisting ischemia/reperfusion-induced ferroptosis in renal cells, offering a new strategy for treating acute kidney injury.

Still’s disease is an inflammatory syndrome linked to the development of further immune dysregulation and hypercytokinaemia termed macrophage activation syndrome. Here the authors implicate the mechanistic target of rapamycin complex 1 in murine models of Still’s disease and macrophage activation syndrome, and provide associations with clinical cases in patients

Marginal liver grafts are associated with a higher risk of graft failure due to their increased susceptibility to ischemia-reperfusion injury. Here, the authors show the regulatory mechanism of fibroblast growth factor 21 and offer insights into its clinical application in early liver graft injury.

The affected cellular populations during Alzheimer’s disease progression remain understudied. Here the authors use a cohort of 84 donors, quantitative neuropathology and multimodal datasets from the BRAIN Initiative. Their pseudoprogression analysis revealed two disease phases.

Tailored to provide diabetes management recommendations from large training and validation datasets, an artificial intelligence system integrating language and computer vision capabilities is shown to improve self-management of patients in a prospective implementation study.

Macrophages are abundant in the microenvironment of diffuse large B-cell lymphoma (DLBCL). Here, the authors use spatial transcriptomics to characterize macrophages in DLBCL and reactive lymphoid tissues, and propose six spatially-derived macrophage signatures that are associated with features like cell of origin and clinical outcomes.

Thin-film transistors with a high electron mobility and operational stability can be fabricated from solution-processed multilayer channels composed of ultrathin layers of indium oxide, zinc oxide nanoparticles, ozone-treated polystyrene and compact zinc oxide.

Two epigenetic regulators—identified in an RNA interference screen in Caenhorhabditis elegans, and conserved in mammals—diminish mitochondrial function and accelerate the age-related deterioration of behaviour.

On-Chip integration of laser systems led to impressive development in many field of application like LIDAR or AR/VR to cite a few. Here the authors harness Pockels effect in an integrated semiconductor platform achieving fast on-chip configurability of a narrow linewidth laser.

Results from a multicenter, randomized phase 2 trial in China show that adjuvant anti-PD-1 therapy in patients with resected hepatocellular carcinoma with microvascular invasion leads to prolonged recurrence-free survival compared to active surveillance.

Organocatalytic atom transfer radical polymerization (O-ATRP) is attractive due to its metal-free nature but catalysts are rarely applied at a low loading. Here the authors introduce a catalyst design logic based on heteroatom-doping of polycyclic arenes, which led to the discovery of oxygen-doped anthanthrene as an organic photoredox catalysts for O-ATRP.

Here, the authors report the realization of room-temperature broadband mid-infrared detectors based on a van der Waals heterostructure with a vertical transport channel, exhibiting specific detectivity and response times comparable or superior to those of commercial cooled HgCdTe photodetectors.

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.

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.

Photosynthesis of leaves located above maize ear provides major source of carbohydrates for grain filling. Here, the authors report the cloning of a MADS-box encoding gene responsible for increased leaf number above the ear, enhancing maize source strength while maintaining source-sink balance.

The authors present a deep learning model that incorporates co-plane attention across image sequences with a performance comparable to senior radiologists in classifying 12 knee abnormalities from MRI. The model significantly improves diagnostic performance and aligns with clinical observations.

A deep learning algorithm shows promising performance in predicting progression to diabetic retinopathy in patients, up to 5 years in advance, potentially providing support for medical treatment decisions and indications for personalized screening frequency in a real-world cohort.

Understanding if lasting immune responses can be induced by SARS-CoV-2 infection is important for controlling the COVID-19 pandemic. Here, the authors show, in a cohort of 25 patients, that IgG and T cell responses, as well as neutralising antibody, are still detectable against various SARS-CoV-2 proteins 3 months post-symptom onset, while IgM levels largely wane at this time.

Resistance to tyrosine kinase inhibitors (TKI) is a limitation to their use in treating chronic myelogenous leukemia (CML). Here, the authors show that targeting the ubiquitin peptidase USP47 overcomes TKI resistance and eliminates leukaemia stem/progenitor cells in primary and xenograft CML murine models.

Low-dose electron microscopy has revealed nonclassical beam damage mechanisms and their descriptive models by enabling real-space visualization of radiation-induced structural dynamics in a metal-organic framework.

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.

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.

Whole-genome sequencing data from more than 2,500 cancers of 38 tumour types reveal 16 signatures that can be used to classify somatic structural variants, highlighting the diversity of genomic rearrangements in cancer.

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.

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.

A pan-cancer genomic analysis reports the effects of structural variations on chromatin domains (TADs). Most TAD disruptions do not result in appreciable changes in expression of nearby genes.

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.

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.

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

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.

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.

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.

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.

Steam treatment transforms inactive Pd₁/CeO₂ catalyst into a highly reactive one by forming a Ce₂O₃-Pd nanoparticle interface. This ___domain interface is created by the coordinated migration of Ce and Pd atoms on the atom trapped Pd₁/CeO₂.

Xuejun Zhang and colleagues report a genome-wide association and replication studies for psoriasis, conducted in Chinese populations. They confirm previous associations in MHC and IL12B to psoriasis susceptibility, and report a new association within the LCE gene cluster at 1q21.

Authors showcase a framework for visual perception enhancement system based on vision-driven metasurfaces. It can help humans obtain information in multiple frequency bands and allows the metasurface platform with more interesting functions.

Many clear cell renal cell carcinoma (ccRCC) patients do not respond or develop resistance to tyrosine kinase inhibitors, such as Sunitinib. Here, the authors perform a proteogenomics analysis of Chinese ccRCC patients treated with Sunitinib and develop a multi-omics classifier to distinguish responders from non-responders.

Ming-Rong Wang, Benjamin Berman and colleagues perform whole-exome sequencing and global methylation profiling on different tumor regions of esophageal squamous cell carcinoma. They find evidence for intratumoral heterogeneity and identify late driver mutations targeting oncogenes and early driver mutations occurring in tumor-suppressor genes.