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Structural variants are an underexplored source of genetic diversity. Here, the authors use phased pangenome graphs to improve detection of these variants in dairy cattle and link these variants to traits of economic importance.

The ingestible device shoots out tiny jets of drugs to deliver them to the GI tract of pigs and dogs — plus how light-powered catalysts could help break down ‘forever chemicals’.

Humanity’s Last Exam, a multi-modal benchmark at the frontier of human knowledge, is designed to be an expert-level closed-ended academic benchmark with broad subject coverage.

CO₂-driven warming reduces phosphorus availability in rice paddies by promoting its binding with iron and organic carbon in the soil, according to a ten-year experiment using a free-air CO₂ enrichment system to simulate in situ climate warming.

Based on two waves of data collection from 748 households in Hong Kong, this analysis sheds light on the number of transmission events that occurred before manifestation of symptoms in influenza A and B cases.

cellSTAAR advances noncoding rare variant association analysis by integrating single-cell genomics data.

The xylosyltransferase isoenzymes XT1 and XT2 catalyze the first glycosylation step in the biosynthesis of proteoglycans. Now, bump-and-hole engineering of XT1 and XT2 enables substrate profiling and modification of proteins as designer proteoglycans to modulate cellular behavior.

Bioactivity-guided isolation of specialized metabolites is an iterative process. Here, the authors demonstrate a native metabolomics approach that allows for fast screening of complex metabolite extracts against a protein of interest and simultaneous structure annotation.

The neurons behind acupuncture’s effect on inflammation, and how antibiotics affect gut bacteria.

Generation of orbital currents in a non-magnetic material can be useful to build efficient orbitronic devices. Now, the interplay of chiral phonons and electrons is shown to produce orbital currents in α-quartz.

The perceived toxicity of organometallic reagents has limited their use in living systems. Now it has been shown that balancing flexible chelation with biocompatible ligands without precluding chemical reactivity enables organonickel-mediated S-arylation inside cells. This reaction enables deep chemical surveys of reactive proteins and covalent tracking of intracellular viral and bacterial pathogens.

A year ago the WHO’s coronavirus emergency alarm was largely ignored. Why?

Chemoautotrophic carbon fixation is vital for evaluating permafrost carbon-climate feedback, but has been largely ignored. Here the authors find that dark carbon fixation predominates ~1/3 of the investigated thermokarst lakes on the Tibetan Plateau.

The structural anisotropy necessary for the powered directional rotation of chemically fuelled molecular motors had previously been provided by chiral fuels or enzymes. Now it has been shown that asymmetry in the organocatalyst itself is sufficient for directional fuelled rotation. This informs how chemical energy is transduced through catalysis, the fundamental process that powers biology.

A ‘photonic skin’ with controllable colour and texture brings materials science a step closer to the adaptive camouflage found in nature.

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.

Human and rodent supragranular pyramidal neurons differ in HCN channel-related properties. Comparison across primates reveals robust HCN1 expression and HCN channel-dependent physiology, with cell type dependent differences in macaques versus humans.

Basal cells, rather than neuroendocrine cells, have been identified as the probable origin of small cell lung cancer and other neuroendocrine–tuft cancers, explaining neuroendocrine–tuft heterogeneity and offering new perspectives for targeting lineage plasticity.

Mutation detection in cfDNA is crucial for cancer diagnosis and monitoring. Here, the authors develop an Enzymatic Cleavage-directed Single Nucleotide Variant Sequencing by integrating Argonaute-mediated cleavage and stem-loop DNA-initiated PCR amplification for cfDNA mutation detection.

Tubulin mutations cause a group of disorders named tubulinopathies. Here, the authors show that specific variants in the tubulin TUBB impair primary cilia formation, putting forward primary cilia defects as a pathogenic factor in some tubulinopathy cases.

Biopolymers can couple to membrane lipids and condense to prewet membranes. Here a range of membrane perturbations in reconstituted systems and cells show that the prewetting is sensitive to membrane composition and phase transitions and can drive interorganelle contact.

Olfactory perception of food-derived odors influences feeding behavior, but the underlying neural pathways remain unclear. Here, the authors show that prolonged exposure to food odor suppresses food intake and body weight gain by activating an olfactory bulb–hypothalamus circuit.

iGluSnFR4f and iGluSnFR4s are the latest generation of genetically encoded glutamate sensors. They are advantageous for detecting rapid dynamics and large population activity, respectively, as demonstrated in a variety of applications in the mouse brain.

Thermoelectric materials can convert temperature gradients into electrical potential; however, traditional materials have unfavorable mechanical, optical, and electrical properties for devices. Here, the authors design an ionic hydrogel system optimizing these properties for human-machine interface devices.

Insufficient electron injection remains a limiting factor for the performance of stretchable organic light-emitting diodes. Here designs for both electron transport layer and cathode in stretchable organic light-emitting diodes are reported to achieve efficient electron injection.

Covalent KRAS inhibitors show initial responses but resistance limits durability. Here drug-induced hapten peptides are identified and characterized, enabling production of high affinity, cross-HLA T cell engagers that stabilize low density hapten peptide MHCs to drive tumor-specific killing.

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.

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.

DNA origami enables precise nanoscale self-assembly. Authors here show how programmable control of interactions and binding angles yields curved surfaces of diverse geometries, broadening the design space for synthetic nanostructures.

Large language models (LLMs) are emerging as powerful tools in healthcare, with a growing role in global health, particularly in low- and middle-income countries. This Perspective examines the current progress, challenges and prospects of LLMs in addressing health system disparities and supporting achievement of the Sustainable Development Goals.

Neuropathic pain is common in HIV patients, but its mechanism is unclear. Here, the authors show that a subpopulation of reactive astrocytes in the spinal cord promotes neuronal loss and drives HIV-associated pain.

High-depth sequencing of non-cancerous tissue from patients with metastatic cancer reveals single-base mutational signatures of alcohol, smoking and cancer treatments, and reveals how exogenous factors, including cancer therapies, affect somatic cell evolution.

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.

Indonesian cattle are unique due to their history of admixture involving both zebu and banteng. Here, Wang et al. identify ~3.5 million novel introgressed SNP variants and provide a genomic map of banteng introgression within and across many cattle breeds, each with unique introgression histories.

Social contact data are important for modelling epidemic transmission dynamics but limited data are available for lower- and middle-income countries. Here, the authors present social contact data in Guatemala, India, Mozambique and Pakistan collected in 2021-2023.

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.

Advancements in sequencing technologies and assemblers have enabled us to generate a complete, haplotype-resolved X chromosome in cattle. This study discovers the cattle X centromere is a natural neocentromere and characterises its genetic and epigenetic structure.

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.

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.

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.

Researchers are hoping to trick the immune system into fighting back against the bane of adolescents everywhere.

Exploring the spin-resolved Hofstadter spectrum in the presence of interactions is challenging. Now, a series of magnetic phase transitions are observed as individual Hofstadter bands are filled, allowing the exchange interactions to be mapped out.

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 genome-wide CRISPR screen helps to identify the Epstein–Barr virus receptor desmocollin 2 for primary epithelial cell infection. Additional infection assays revealed that desmocollin 3 also aids infection.

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.

Here Plikus and colleagues provide a step-by-step protocol for the isolation and characterization of lipocartilage from mouse ear and the purification of its lipochondrocytes.