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The Taiwan Precision Medicine Initiative (TPMI) has built a cohort of more than half a million individuals with Han Chinese ancestry, providing a rich resource of genetic and medical data for this group.

Identifying jets originating from heavy quarks plays a fundamental role in hadronic collider experiments. In this work, the ATLAS Collaboration describes and tests a transformer-based neural network architecture for jet flavour tagging based on low-level input and physics-inspired constraints.

Here the authors reveal a study of 486,956 Han Chinese individuals showing that most people with genetic variants affecting drug response do not have the predicted adverse events, highlighting the challenges of implementing pharmacogenetics in clinical practice.

Tau protein has been observed to form condensates in various contexts. Here, the authors show that tau can form DNA-anchored droplets that organize nearby microtubules, pointing to a role in mitosis.

Fabrication of fully stretchable organic light-emitting diodes incorporating an intrinsically stretchable exciplex-assisted phosphorescent layer along with MXene-contact stretchable electrodes is described, demonstrating high efficiency and mechanical compliance for applications in next-generation wearable and deformable displays.

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.

Two-dimensional molybdenum disulfide (MoS₂)-based active arrays made by growing wafer-scale trilayer MoS₂ directly on a polyimidine substrate achieve high-fidelity spatiotemporal neuronal monitoring in vitro and in living mice.

By controlling the coalescence of multiple unidirectional grains on vicinal sapphire substrates, wafer-scale channels of single-crystalline molybdenum disulfide can be grown, which exhibit coherent quantum transport across large length scales.

An analogue memory built from a two-dimensional material with antimony contacts enables very high, energy-efficient in-memory searches and k-nearest-neighbour classification, offering a scalable, low-power hardware platform for real-time edge artificial intelligence applications.

Determinants of WEE1 inhibitor sensitivity in cancer cells are largely undefined. Here, the authors show that WEE1 inhibitors beyond their cell cycle perturbing effects also lead to paradoxical activation of the integrated stress response kinase GCN2.

Determining graphene domain size and distribution is important for realizing functional electronic devices. Here, the authors use liquid crystals to study graphene surfaces, via the liquid crystal molecules aligning with the domains, and use nematic to smectic transitions to study defects.

Researchers developed a nano-resolution, multi-material, and multi-layer printing method for the colloidal nanocrystal library. The electrohydrodynamic technique is enabled by in-situ ligand treatments to achieve fully printed infrared photodiodes.

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.

Charge-to-spin conversion is a key theme of spintronics and its realization in topological materials is highly desired. Here, Liu et al. report spatial imaging of current-induced spin accumulation at the edges of Bi₂Se₃ and BiSbTeSe₂ topological insulators.

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.

The photoelectric conversion efficiency of bulk photovoltaic devices has been limited by open circuit voltages or short circuit current densities. Here, authors construct a 2D in-plane device based on ferroelectric NbOBr₂ to improve photovoltaic performance and achieve a device efficiency of 1.25%.

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

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.

The specific capacity of an important commercial cathode material, lithium iron phosphate, is much lower than its theoretical value. Hu et al. report that incorporation of electrochemically exfoliated graphene layers in a carbon coating improves capacity beyond that predicted by theory.

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.

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.

Environmental and genetic factors affect the pathogenesis of inflammatory bowel disease (IBD). Here the authors show a loss of function Adenosine deaminases acting on RNA 1 (ADAR) variant that results in accumulation of dsRNA which is sensed by MDA5 and promotes bowel inflammation.

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.

Hydrogen adsorption/desorption behavior plays a key role in hydrogen evolution reaction catalysis. Here, the authors demonstrate the rational balancing of hydrogen adsorption/desorption by orbital modulation for significantly enhanced hydrogen evolution performance.

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.

Monolayer transition metal dichalcogenides have so far been thought to be direct bandgap semiconductors. Here, the authors revisit this assumption and find that unstrained monolayer WSe₂ is an indirect-gap material, as evidenced by the observed photoluminescence intensity-energy correlation.

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.

Integrative analyses of transcriptome and whole-genome sequencing data for 1,188 tumours across 27 types of cancer are used to provide a comprehensive catalogue of RNA-level alterations in cancer.

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.

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.

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.

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 flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 cancer whole genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

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.

Molybdenum disulphide offers some tantalizing advantages over graphene as a material with which to fabricate field-effect transistors. Kimet al. present a comprehensive study of field-effect transistors made from multilayer samples of MoS₂and find that they can achieve high carrier mobilities.

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

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.

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.

In this study the authors consider the structural variants (SVs) present within cancer cases of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. They report hundreds of genes, including known cancer-associated genes for which the nearby presence of a SV breakpoint is associated with altered expression.

The family of two-dimensional materials is ever growing, but greater functionality can be realized by combining them together. Here, the authors report the direct synthesis of multijunction heterostructures made from graphene, tungsten diselenide and either molybdenum disulphide or molybdenum diselenide.

Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

Multisystem inflammatory syndrome in children (MIS-C) onsets in COVID-19 patients with manifestations similar to Kawasaki disease (KD). Here the author probe the peripheral blood transcriptome of MIS-C patients to find signatures related to natural killer (NK) cell activation and CD8+ T cell exhaustion that are shared with KD patients.