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Authors develop a machine learning model using routine blood tests that identify people at higher risk of complications from high myopia. Their results support opportunistic screening during health checks to enable earlier referral.

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.

This study highlights the Wheat Spatial Omics Consortium, which aims to build a spatiotemporal single-cell atlas of wheat in response to different treatments, thereby contributing to the development of sustainable and climate-resilient wheat.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

The role of cancer associated fibroblasts (CAF) in immunotherapy response of gastric cancer (GC) is elusive. Here, by single cell sequencing, spatial transcriptomic and functional evaluation, the authors identify antigen-presenting CAF (apCAF) with high MHC II, which is correlated with immunotherapy responsiveness of GC patients.

Zhang et al. demonstrate that the smooth muscle-specific deficiency of the mitochondrial NAD⁺ transporter SLC25A51 impairs the biosynthesis of proline and type III collagen and results in thoracic and abdominal aortic aneurysm.

The crystal structure of an inward-facing, nucleotide-free folate energy-coupling factor transporter from Lactobacillus brevis at a resolution of 3 Å suggests a transport model that involves a substantial conformational change of the substrate-specific binding protein, FolT.

Copper (Cu) is an essential mineral nutrient but high concentrations in rice grain can cause toxicity. Here the authors provide evidence that natural variation in rice grain Cu concentration is caused by altered sequestration of Cu into root vacuoles due to a single amino acid substitution in the OsHMA4 transporter.

Low cadmium (Cd) accumulation in a rice cultivar is shown to be due to duplication of the manganese/cadmium transporter gene. Introgression of this allele into an elite rice cultivar lowered Cd accumulation in rice grain without penalty of grain yield and eating quality when grown in Cd-contaminated soil.

Imaging changes in molecular geometries with sufficient temporal and spatial resolution to image nuclei is a critical challenge in the chemical sciences. Here the authors report gasphase Megaelectronvolt electron diffraction with 100 fs temporal resolution and subAngstrom spatial resolution.

The regulation of genetic diversity resulting from polyploidization and its impact on environmental adaptability remain unclear. Here, the authors show that LHP1-mediated epigenetic buffering of subgenome diversity and defense responses confers genome plasticity and adaptability in allopolyploid wheat.

The development of highly water-permeable membranes is key for the treatment of high salinity waters. Here the authors enhance the water permeability of a metal-organic framework nanoporous membrane via an intra-crystalline defect engineering strategy.

Model projections suggest that, even under a low-emissions scenario, lakes on the Tibetan Plateau will increase in area by about 50% by 2100, with widespread impacts on infrastructure and ecosystems.

Carbon dioxide influences plant–water relations and gas exchange by regulating stomatal aperture. Here, Tian et al. characterize RHC1, a MATE family transporter that under elevated carbon dioxide concentrations promotes stomatal closure via activation of the SLAC1 anion channel.

Two seismic discontinuities in the mantle transition zone beneath the western Pacific represent subducted slab interfaces that could be the slab Moho and partially molten sub-slab asthenosphere, according to an analysis of seismic data.

Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities.

The direct impacts of transposable element dynamics on polyploid regulation and developmental specificity remain unclear. Here, the authors show that a large proportion of enhancer-like elements (ELEs) are mainly originated from RLG_famc7.3 specifically expanded in subgenome A, producing active nascent transcripts and influencing wheat spike development.

Metal carbenes are typically highly reactive and unstable species, proposed as intermediates in numerous catalytic processes. Here the authors report the isolation and characterization of gold and copper carbene intermediates involved in catalytic cyclization reactions.

Carbon flux data from 156 Qinghai-Tibet Plateau lakes reveal a net sink of around 7 Tg carbon per year during 2011–2022, about one-fifth of the regional terrestrial carbon sink, with projections indicating future changes under lake expansion and warming.

X-ray Fourier-transform holography has been restricted by a limited choice of reference waves. Here, Martin et al.demonstrate X-ray Fourier-transform holography with an almost unrestricted choice for the reference wave, allowing greater flexibility in the design of holographic experiments.

Endoplasmic reticulum (ER)-associated degradation (ERAD) removes misfolded proteins from the secretory pathway. Here the authors identify two plant-specific proteins in Arabidopsis, PAWH1 and PAWH2, that bind to and stabilise the ER-anchored ubiquitin ligase Hrd1.

How subgenome-divergent and -convergent transcription is mediated and harmonized in hexaploid common wheat genome remains unclear. Here, via characterizing the cistrome maps, the authors reveal that transposon elements with transcription factor binding ability have the potential to make the contribution.

Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.