Search

G49, a dual glucagon/glucagon-like peptide-1 receptor agonist, triggers an inter-organ crosstalk between adipose tissue, pancreas and liver, leading to brown fat activation with the final outcomes of increased energy expenditure and body weight loss.

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

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.

Graphene–quantum dots on CMOS sensor offers broadband imaging.

Spontaneous parametric down-conversion in thin films should allow to realise extremely compact entangled photon sources. Here, the authors generate entangled photon pairs from a 3R-MoS2 flake, characterize them via quantum state tomography, and show how to tune between different Bell state outputs by changing the pump polarization.

Advanced fabrication techniques enable a wide range of quantum devices, such as the realization of a topological qubit. Here, the authors introduce an on-chip fabrication technique based on shadow walls to implement topological qubits in an InSb nanowire without fabrication steps such as lithography and etching.

Barium tagging is a key ingredient for future detectors of neutrinoless double beta decay in low-background environments. Here, the authors demonstrate fluorescence imaging of single Ba2+ ions in high pressure Xenon gas, by comparing activity between Ba2+ chelated and unchelated samples of crown-ether chemosensors.

Regulation of gene expression and splicing are thought to be tissue-specific. Here, the authors obtain genomic and transcriptomic data from putamen and substantia nigra of 117 neurologically healthy human brains and find that splicing eQTLs are enriched for neuron-specific regulatory information.

The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

There is currently no disease-modifying treatment for Parkinson’s disease, a common neurodegenerative disorder. Here, the authors use genetic variation associated with gene and protein expression to find putative drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome.

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

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.

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.

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.

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.

2D–2D heterostructures are typically held together by van der Waals interactions. Now, an on-device MoS₂–graphene heterostructure has been prepared that is covalently linked through a bifunctional molecule featuring a maleimide and a diazonium group. The electronic properties of the resulting heterostructure are shown to be dominated by the molecular interface.

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.

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.

The single-bond-resolved chemical structures of transient intermediates in a complex bimolecular reaction cascade were imaged by noncontact atomic force microscopy. Theoretical simulations reveal that the kinetic stabilization of experimentally observable intermediates is governed by selective energy dissipation to the substrate and entropic changes along the reaction pathway.

The results obtained by seventy different teams analysing the same functional magnetic resonance imaging dataset show substantial variation, highlighting the influence of analytical choices and the importance of sharing workflows publicly and performing multiple analyses.

This study investigates the dynamics of immunological markers after first SARS-CoV-2 vaccination dose in cohort of healthcare professionals in Denmark. Natural infection was associated with higher antibody responses, and IgG decline varied by age, sex, T-cell response, previous infection, and interval between vaccine doses.

An interrupted time series analysis of 31 healthcare services in ten low-income, middle-income and high-income countries demonstrates that the COVID-19 pandemic caused immediate, heterogeneous and prolonged disruptions in service delivery, highlighting the need for health system resilience in pandemic preparedness.

Phylogenomic analysis of 7,923 angiosperm species using a standardized set of 353 nuclear genes produced an angiosperm tree of life dated with 200 fossil calibrations, providing key insights into evolutionary relationships and diversification.

The future challenges and potential opportunities of robotics and autonomous systems in urban ecosystems, and how they may impact biodiversity, are explored and prioritized via a global horizon scan of 170 experts.

The authors study the role of TRIM33 in androgen receptor (AR) transcriptional activity. They show that TRIM33 and AR co-occupy most of their genomic binding sites and TRIM33 loss altered expression of a subset of AR-responsive genes.

Contrary to the view that urbanization is a major driver of the global rise in obesity, the global increase in body-mass index is shown to be mostly due to increases in the body-mass indexes of rural populations.

This Review highlights fundamental optical phenomena that have been redefined at the nanoscale by anisotropic polaritons, including anomalous cases of refraction, reflection and focusing.

Here the authors propose a scheme for observing axion topology in 3D photonic crystals. Exploiting gyromagnetism, they demonstrate topological switching of axionic channels of light, outlining a way to realize axion topology in Weyl semimetal domain walls.

The bacterium Helicobacter pylori, often found in the human stomach, can be classified into distinct subpopulations associated with the geographic origin of the host. Here, the authors provide insights into H. pylori population structure by collecting over 1,000 clinical strains from 50 countries and generating and analyzing high-quality bacterial genome sequences.

In this study, the authors investigate immune responses following a third (booster) SARS-CoV-2 vaccination dose in a cohort of healthcare professionals in Denmark. They find stronger immune responses among those with a prior infection, and correlation between lower antibody responses and higher risk of subsequent breakthrough infection.

The success of treatment regimens promoting differentiation has not been explored for all acute myeloid leukemia (AML) subtypes. Here, the authors identify and characterize two lysine (K) deacetylase inhibitors promoting myeloid differentiation in all AML subtypes at low non-cytotoxic doses.

Entanglement was observed in top–antitop quark events by the ATLAS experiment produced at the Large Hadron Collider at CERN using a proton–proton collision dataset with a centre-of-mass energy of √s  = 13 TeV and an integrated luminosity of 140 fb⁻¹.

Knowledge of genomic features specific to humans may be important for understanding disease. Here the authors demonstrate a potential role for these human-lineage-specific sequences in brain development and neurological disease.

Refraction between anisotropic media is still an unexplored phenomenon. Here, the authors investigate the propagation of hyperbolic phonon polaritons traversing α-MoO3 nanoprisms, showing a bending-free refraction effect and sub-diffractional focusing with foci size as small as 1/50 of the light wavelength in free space.

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Hydroxychloroquine and chloroquine have been investigated as a potential treatment for Covid-19 in several clinical trials. Here the authors report a meta-analysis of published and unpublished trials, and show that treatment with hydroxychloroquine for patients with Covid-19 was associated with increased mortality, and there was no benefit from chloroquine.

Using data from a single time point, passenger-approximated clonal expansion rate (PACER) estimates the fitness of common driver mutations that lead to clonal haematopoiesis and identifies TCL1A activation as a mediator of clonal expansion.

MHCII proteins bind and present both foreign and self-antigens to potentially activate CD4+ T cells via cognate T cell receptors (TCRs) during the adaptive immune response. Here, the authors combine NMR-detected H/D exchange with Markov modelling analysis to shed light on the dynamics of MHCII peptide exchange.