Search

Bi₂O₂Se is a promising 2D semiconductor with high electron mobility and native high-k dielectric layers, but its p-type doping remains challenging. Here, the authors report a low-temperature substitutional doping method to fabricate 2D Bi₂O₂Se p-n junctions and p-type transistors

Rhombohedral-stacked molybdenum disulfide with sliding ferroelectric behaviour can be used to create atomically thin ferroelectric transistors for computing-in-memory device applications.

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.

Pancreatic Spint1 disruption causes glucose intolerance, reduced islet size, and decreased insulin synthesis and secretion. SPINT1 regulates HEPSIN’s modification of GLP1R/MAFA activation, vital for glucose control by β cells, linking it to diabetes.

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.

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.

A common East Asian-specific defect of an alcohol metabolizing enzyme (ALDH2) causes glucose abnormality, obesity, and fatty liver. Here, the authors show an ALDH2 activator can treat these metabolic disorders in mice.

Here the authors conduct a multi-ancestry meta-analysis of telomere length, used diverse approaches to identify genes underlying association signals, and experimentally validated POP5 and KBTBD6 as regulators of telomere length in human cells.

Using a combination of antibody- and LC–MS/MS-based methods, Zhang et al. reveal lysine l-lactylation as the key lactylation isomer in cellular histones, responding dynamically to glycolysis and positively correlating with lactyl-CoA levels, providing insights into the Warburg effect.

The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

Genomic analyses of large population-based cohorts uncover the genetic determinants of perivascular space burden, an MRI marker of cerebral small vessel disease, across the lifespan, and reveal potential pathways implicated in the etiology of stroke and dementia.

Self-assembled nanocomposites present opportunities for a range of phase morphologies and desirable properties. Here authors present tuneable self-assembled nanostructures in the SnO2:NiO system; the double-percolated system expands the design of self-assembled oxides for practical applications, e.g. in optoelectronics.

Whole genome sequences enable discovery of rare variants which may help to explain the heritability of common diseases. Here the authors find that ultra-rare variants explain ~50% of coronary artery disease (CAD) heritability and highlight several functional processes including cell type-specific regulatory mechanisms as key drivers of CAD genetic risk.

The fabrication and development of high-entropy alloys (HEAs) with exceptional functionalities is a rapidly expanding field. The extrinsic factors, such as the existence of grains and different phases, would complicate understanding the physical phenomena. We classified the epitaxial system into atomic-site disordered (ASD) and amorphous system into structurally disordered (SD) states, respectively, to exclude the extrinsic effects of HEAs. With a comprehensive study of the magnetic and transport properties, we can further promote the research of high entropy systems.

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.

Andrew Morris, Mark McCarthy, Michael Boehnke and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes, including 26,488 cases and 83,964 controls from populations of European, east Asian, south Asian and Mexican and Mexican American ancestry. They identify seven loci newly associated with type 2 diabetes and examine the genetic architecture of disease across populations.

Genome-wide association analyses of two oral glucose tolerance test-derived measures of postprandial insulin resistance discover ten new loci. Functional characterization identifies nine candidate genes implicated in the regulation of GLUT4.

Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

Most studies of the genetics of the metabolome have been done in individuals of European descent. Here, the authors integrate genomics and metabolomics in Black individuals, highlighting the value of whole genome sequencing in diverse populations and linking circulating metabolites to human disease.

Although the common genetic variants contributing to blood lipid levels have been studied, the contribution of rare variants is less understood. Here, the authors perform a rare coding and noncoding variant association study of blood lipid levels using whole genome sequencing data.

STAARpipeline is a comprehensive framework for flexible and scalable rare-variant association analysis using whole-genome sequencing data and annotation information.

The FLIGHT-FXR trial, testing farnesoid X receptor agonist tropifexor in nonalcoholic steatohepatitis, demonstrated sustained decreases in alanine aminotransferase levels and hepatic fat fraction, but not aspartate aminotransferase, with dose-dependent pruritus being the most common adverse event.

A study shows that clonal haematopoiesis of indeterminate potential is associated with an increased risk of chronic liver disease specifically through the promotion of liver inflammation and injury.

Platelet aggregation is associated with myocardial infarction and stroke. Here, the authors have conducted a whole genome sequencing association study on platelet aggregation, discovering a locus in RGS18, where enhancer assays suggest an effect on activity of haematopoeitic lineage transcription factors.

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.

Vertebral column length and shape exhibits remarkable robustness within a species but diversity across species. Here the authors reveal the molecular logic constraining vertebral number in mouse and a novel role for posterior Hox genes in this context.

Yoon Shin Cho, Mark Seielstad and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes in individuals of east Asian ancestry. They identify eight new loci associated with type 2 diabetes.

Our combined large-scale neuroimaging and brain transcriptome study demonstrates genetic substrates underlying cortical functional abnormalities in depression, suggesting transcriptomic decoding of regional cortical vulnerability to depression.

Transmembrane water-efflux rate is a sensitive biomarker of the expression of aquaporin-4, and can be measured via conventional dynamic-contrast-enhanced magnetic resonance imaging, as shown in animals and in patients with gliomas.

Analysis of 97,691 high-coverage human blood DNA-derived whole-genome sequences enabled simultaneous identification of germline and somatic mutations that predispose individuals to clonal expansion of haematopoietic stem cells, indicating that both inherited and acquired mutations are linked to age-related cancers and coronary heart disease.

Pooling participant-level genetic data into a single analysis can result in variance stratification, reducing statistical performance. Here, the authors develop variant-specific inflation factors to assess variance stratification and apply this to pooled individual-level data from whole genome sequencing.

Pulmonary emphysema obstruct airflow in the lung and often develop in smokers. Here Su et al. show that prothymosin α contributes to emphysema development through alterations in the acetylation of histones and the transcription factor NF-κB, and that exposure to cigarette smoke increases prothymosin α expression.

The preparation of chiral monolayer-protected metal clusters is interesting for their potential applications in a variety of fields, including catalysis. Here, the authors synthesize chiral Ag₁₄ nanoclusters in an all-achiral environment, and decipher the origin of chirality at the molecular level; the solvent choice is key to achieve homochiral crystallization.

We present a promising technique for transparent flexible conducting oxide heteroepitaxial films: the direct fabrication of epitaxial molybdenum-doped indium oxide (IMO) thin films on a transparent flexible muscovite substrate. An n-type epitaxial IMO film is demonstrated with a mobility of 109 cm² V⁻¹ s⁻¹, a figure of merit of 0.0976 Ω⁻¹, a resistivity of 4.5 × 10⁻⁵ Ω cm and an average optical transmittance of 81.8% in the visible regime. IMO heterostructure not only exhibits excellent performance but also shows excellent mechanical durability. This study demonstrated an extraordinary achievement for the evolution and expansion of next-generation smart devices.

MetaSTAAR enables functionally informed rare variant association analysis in biobank-scale cohorts using an efficient, sparse matrix approach for summary statistic storage.

STAAR is a powerful rare variant association test that incorporates variant functional categories and complementary functional annotations using a dynamic weighting scheme based on annotation principal components. STAAR accounts for population structure and relatedness and is scalable for analyzing large whole-genome sequencing studies.

A high-resolution reference panel based on whole-genome sequencing data enables accurate imputation of HLA alleles across diverse populations and fine-mapping of HLA association signals for HIV-1 host response.