Search

Predicting gene expression from H&E slides is a cost-effective alternative to Spatial Transcriptomics for clinical use. Here the authors introduce a Multiple Instance Learning approach to infer single-cell expression, unlike prior methods which operate at coarser patch level.

The IKKα kinase was previously reported to promote metastasis. Here, the authors reveal that loss of IKKα function promotes colorectal cancer liver metastasis by expanding a CDH17⁺/CLDN2⁺ epithelial subpopulation characterized by tight junction stabilization and collective migration.

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).

Previous studies identified an association between the 2q35 locus and breast cancer. Here, the authors show that a SNP at 2q35, rs4442975, is associated with oestrogen receptor positive disease and suggest that this effect is mediated through the downregulation of a known breast cancer gene, IGFBP5.

Autism spectrum disorder (ASD) is characterized by heterogeneous phenotypes. Disruption of the gut–brain axis (GBA) has been implicated in ASD although with limited reproducibility across studies. In this study, the authors propose a framework to leverage multi-omic datasets and investigate how the GBA influences ASD.

Africa’s savannahs and shrublands have been assumed to provide a large area for the expansion of cropland with relatively little damage to the environment. Research now shows that conversion would be likely to have high carbon and biodiversity costs.

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Similarities in cancers can be studied to interrogate their etiology. Here, the authors use genome-wide association study summary statistics from six cancer types based on 296,215 cases and 301,319 controls of European ancestry, showing that solid tumours arising from different tissues share a degree of common germline genetic basis.

Human behaviour is complex and multifaceted, and is studied by a broad range of disciplines across the social and natural sciences. To mark our 5th anniversary, we asked leading scientists in some of the key disciplines that we cover to share their vision of the future of research in their disciplines. Our contributors underscore how important it is to broaden the scope of their disciplines to increase ecological validity and diversity of representation, in order to address pressing societal challenges that range from new technologies, modes of interaction and sociopolitical upheaval to disease, poverty, hunger, inequality and climate change. Taken together, these contributions highlight how achieving progress in each discipline will require incorporating insights and methods from others, breaking down disciplinary silos.

Swanton and colleagues present a clonal expression signature, ORACLE, which, in combination with clinicopathological and molecular risk factors, can predict survival of patients with lung adenocarcinoma, and they prospectively validate its prognostic value.

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Fine-scale geospatial mapping of overweight and wasting (two components of the double burden of malnutrition) in 105 LMICs shows that overweight has increased from 5.2% in 2000 to 6.0% in children under 5 in 2017. Although overall wasting decreased over the same period, most countries are not on track to meet the World Health Organization’s Global Nutrition Target of <5% in over half of LMICs by 2025.

Animal migrations are extensive and crucial for ecosystem health but are in decline. This study identifies 1,787 sites and links among them for 109 marine species, highlighting the need for international cooperation and providing policymakers with essential knowledge for effective conservation.

This overview of the ENCODE project outlines the data accumulated so far, revealing that 80% of the human genome now has at least one biochemical function assigned to it; the newly identified functional elements should aid the interpretation of results of genome-wide association studies, as many correspond to sites of association with human disease.

Hypertrophic cardiomyopathy (HCM) is caused by point mutations in sarcomeric proteins. Here the authors develop an optimized model of the sequestered state of cardiac myosin and define the features affecting the lever arm compliance, allowing them to group mutations in classes and to elucidate the molecular mechanisms leading to cardiac dysfunction in HCM.

A graphene-based Josephson junction incorporated in a superconducting circuit forms a voltage-tunable transmon qubit that can be controlled coherently.

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

Petrels are wide-ranging, highly threatened seabirds that often ingest plastic. This study used tracking data for 7,137 petrels of 77 species to map global exposure risk and compare regions, species, and populations. The results show higher exposure risk for threatened species and stress the need for international cooperation to tackle marine litter.

Combination of epidemiology, preclinical models and ultradeep DNA profiling of clinical cohorts unpicks the inflammatory mechanism by which air pollution promotes lung cancer

Analyses of multiregional tumour samples from 421 patients with non-small cell lung cancer prospectively enrolled to the TRACERx study reveal determinants of tumour evolution and relationships between intratumour heterogeneity and clinical outcome.

Research on superconductivity in magic-angle twisted bilayer graphene reveals unconventional behaviour, an anisotropic gap and a significant role of quantum geometry, using combined d.c. transport and microwave measurements, suggesting new insights into superconductivity mechanisms.

Geospatial estimates of child growth failure in Africa provide a baseline for measuring progress and a precision public health platform to target interventions to those populations with the greatest need.

This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

Here, twisted boron nitride is demonstrated to be a versatile moiré substrate for band structure engineering.

Coupling technological advances with sociocultural and policy changes can transform agri-food systems to address pressing climate, economic, environmental, health and social challenges. An international expert panel reports on options to induce contextualized combinations of innovations that can balance multiple goals.

Kim Worley and colleagues report the whole-genome sequence of the common marmoset, Callithrix jacchus, the first New World monkey to be sequenced.

African swine fever (ASF) is diminishing pork production in East Asia, especially China, but the global economic costs of ASF are unclear. Mason-D’Croz et al. model the effect of Chinese ASF outbreak scenarios on the global pork market, predicting pork, beef and poultry price increases and a decline in per capita calorie intake in China.

The LHCb experiment at CERN has observed significant asymmetries between the decay rates of the beauty baryon and its CP-conjugated antibaryon, thus demonstrating CP violation in baryon decays.

A moiré quasicrystal constructed by twisting three layers of graphene with two different twist angles shows high tunability between a periodic-like regime at low energies and a strongly quasiperiodic regime at higher energies alongside strong interactions and superconductivity.

RNA sequencing data and tumour pathology observations of non-small-cell lung cancers indicate that the immune cell microenvironment exerts strong evolutionary selection pressures that shape the immune-evasion capacity of tumours.

Doug Easton and colleagues report the results of a large-scale genome-wide association study of breast cancer. They discover 15 new susceptibility loci and highlight likely target genes in several of the newly associated regions.

Producing beef sustainably at a global level is a challenge given the multiple trade-offs between the economic and environmental objectives involved. This study presents an approach that helps to identify such trade-offs at the scale needed for the beef industry to become more sustainable.

Endothelial cells in white adipose tissue are shown to produce polyamines, which regulate adipocyte lipolysis, thus demonstrating how local angiocrine signals contribute to healthy adipose tissue homeostasis.

Moiré potentials substantially alter the electronic properties of twisted bilayer graphene at a magic twist angle. A propagating plasmon mode, which can be observed with optical nano-imaging, is associated with transitions between the moiré minibands.

Magic-angle twisted bilayer graphene exhibits a wide range of phases, such as metal, insulator and superconductor states. Now local electrostatic gating devices made from this two-dimensional material platform enable highly tunable Josephson junctions, edge tunnelling spectroscopy and single-electron transistor operation.

Canon et al. offer insights into the auto-inhibition and activation of the minus-end directed motor myosin VI. The work highlights how differential relief of auto-inhibition allows for fine control of myosin VI activity in vivo.

To address the view that degrowth and the food system are not well aligned, this Perspective offers concrete practical actions to integrate the two, thereby widening the narrative and analytical lens of social–ecological transformation.

In the first results from an ongoing global cancer screening data repository, screening program organization was better overall in Europe compared to other continents; however, there were substantial gaps in implementation across both high- and low-resource settings.

Measurements of subclonal expansion of ctDNA in the plasma before surgery may enable the prediction of future metastatic subclones, offering the possibility for early intervention in patients with non-small-cell lung cancer.

A global model finds that the environmental impacts of the food system could increase by 60–90% by 2050, and that dietary changes, improvements in technologies and management, and reductions in food loss and waste will all be needed to mitigate these impacts.

It is well known that graphene deposited on hexagonal boron nitride produces moiré patterns in scanning tunnelling microscopy images. The interaction that produces this pattern also produces a commensurate periodic potential that generates a set of Dirac points that are different from those of the graphene lattice itself.

The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.