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Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Genomic analyses applied to 14 childhood- and adult-onset psychiatric disorders identifies five underlying genomic factors that explain the majority of the genetic variance of the individual disorders.

Three-component Fermi gases represent a versatile platform for quantum simulation, including quantum chromodynamics-like physics, pairing and few-body effects. Here the authors demonstrate control of spin imbalances and an unexpected asymmetric decay due to different three-body losses for each component, and whose microscopic mechanism remains to be understood.

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.

This study shows that long-term climate change systematically alters small-scale wind variability and its vertical velocity, influencing cloud microphysics and the Earth’s radiative balance.

A machine-learning-based computational approach to probe pathway coessentiality reveals that complex II of the electron transport chain regulates de novo purine synthesis, and can be targeted to treat acute myeloid leukaemia.

Variants in the PSMC5 gene impair proteasome function and cellular homeostasis, altering brain development in children. This study reveals underlying molecular mechanisms contributing to this neurodevelopmental phenotype, and suggests therapeutic leads for neurodevelopmental proteasomopathies.

The 4D Nucleome Project demonstrates the use of genomic assays and computational methods to measure genome folding and then predict genomic structure from DNA sequence, facilitating the discovery of potential effects of genetic variants, including variants associated with disease, on genome structure and function.

The first sample of farside lunar soil, collected by Chang’e-6, is strongly cohesive. The high cohesion stems from its fine particle size with intricate shape, probably a result of the high plagioclase abundance and intense meteorite impacts at the sampling site.

The Hubbard model describes the physics of strongly correlated electron systems, but is difficult to solve. Now, a scheme to systematically and efficiently relate the exactly solvable Hatsugai–Kohmoto model to the Hubbard model has been identified.

Though water evaporation-driven electricity generation is an attractive sustainable energy production strategy, existing electronic devices suffer from poor performance or is costly. Here, the authors report sustainable biofilms for efficient, low-cost evaporation-based electricity production

Massively parallel sequencing is a precise way to analyze copy-number variations given the right computational tools. An algorithm now facilitates the detection and fine mapping of copy-number gains and losses from millions of short sequence reads.

Fresh basaltic glass preserved in a sample of volcanic breccia record a single eruptive event at the Alpha Ridge around 90 Ma, suggesting that parts of the ridge were emergent during the final stages of magmatism in the High Arctic Large Igneous Province, according to geochemical and geochronological analysis of the sample.

Electrospray ionization loses most ions upon transfer into high vacuum in a mass spectrometer. Here, the authors present a nanopore ion source that emits ions directly into vacuum from aqueous solutions, achieving an ion transmission efficiency of over 90%.

A metabolic system of engineered biocatalysts using the noncanonical cofactor nicotinamide mononucleotide is established for biomanufacturing in cell-free systems and in Escherichia coli without interference from nicotinamide adenine dinucleotide and nicotinamide adenine dinucleotide phosphate.

A new type of energy-harvesting device, based on protein nanowires from the microbe Geobacter sulforreducens, can generate a sustained power output by producing a moisture gradient across the nanowire film using natural humidity.

Direct dark matter searches need to take into account whether the total observation time is lower than the characteristic coherence time of the DM field. Analysing this generally overlooked scenario, here the authors quantify the impact on DM limits of the stochastic nature of the virialised ultralight field.

The intracellular applications of STED microscopy are limited by the availability of dyes. Here the authors develop a two-colour labelling strategy based on SiR and ATTO590 dyes, and apply their strategy to image various subcellular membrane compartments.

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.

High density environmentally sensitive (HIDE) probes allow for long time-lapse super-resolution imaging of live cells. Here the authors develop a second HIDE probe with a bio-orthogonal labelling strategy to enable two-color nanoscopy of two organelles over extended periods.

Mixtures of peptides and nucleic acids tend to demix and form coacervate droplets. Here, the authors show that even short peptides and oligonucleotides form droplets. DNA and RNA impart different properties to these protocells – stability, fluidity and the potential to host RNA chemistry.

Interferometric detection schemes exploit phase-sensitive combination of spatially separated observation to increase sensitivity. Here, the authors combine data from two atomic comagnetometers separated by 860 km to improve limits on axion-like particles across nine orders of magnitude of mass range.

Maurizi et al. introduce GraphMetaMat, a graph-based AI framework for designing 3D metamaterials with programmable nonlinear responses, enabling the inverse design of new structural and acoustic behaviours despite fabrication defects and limits.

On-chip spectrometers typically have limited spectral channels and low signal to noise ratios. Here the authors introduce a digital architecture that uses switches to change the interferometer path lengths, enabling exponentially more spectral channels per circuit element and lower noise by leveraging a machine learning reconstruction algorithm.

Plasma proteomic analysis of presymptomatic individuals with amyotrophic lateral sclerosis identifies novel disease-associated proteins and enables the development of an accurate diagnostic biomarker panel.

GIANT, a genetically informed brain atlas, integrates genetic heritability with neuroanatomy. It shows strong neuroanatomical validity and surpasses traditional atlases in discovery power for brain imaging genomics.

Implanting an electrode into the cortex activates microglia, triggers the foreign body response, and impedes intracortical brain-computer interface. Here, the authors apply low-intensity pulsed ultrasound stimulation (LIPUS) after probe insertion to reduce microglia-mediated neuroinflammation.

Using chromatin conformation capture and nascent transcriptomics, the authors reveal the extent to which HCMV interacts with and alters host chromatin and transcriptional programs, along with the role played by microtubule-derived mechanical forces in shaping these events.

TUG protein localizes to the endoplasmic reticulum-Golgi intermediate compartment, forms biomolecular condensates, and organizes and stabilizes these membranes to support their function in diverse secretory and degradative trafficking pathways.

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.

Lithium has an essential role in the brain and is deficient early in Alzheimer’s disease, which can be recapitulated in mice and treated with a novel lithium salt that restores the physiological level.

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

Analysis of microbial cell and virus abundance estimates from 25 distinct marine surveys reveals that virus-to-microbial cell ratio decreases with microbial cell density, questioning the idea that viral abundance is always 10-fold higher.

Orthogonal light based control of biology is of interest, yet the synthesis of materials capable of this is complex. Here, the authors report on the synthesis of simpler upconversion nanoparticles which used cross-relaxation to change emission spectra from red to green light with a change in NIR wavelength.

Lipoprotein uptake dependent on sulfated glycosaminoglycans linked to cell-surface proteoglycans is a key determinant of ferroptosis sensitivity in cancer.

Designing energy efficient systems capable to directly process signals at biological voltages remains a challenge. Here, the authors propose a bio-compatible memristor device based on protein-nanowire dielectric, harvested from the bacterium Geobactor sulfurreducens, working at biological voltages.

Here, authors use NeuroPainting, a high-content imaging assay, to reveal cell-type-specific effects of 22q11.2 deletion in neural cells, linking adhesion gene dysregulation to mitochondrial and structural abnormalities, especially in astrocytes.

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.

Candida auris is a fungal pathogen notorious for persistent skin colonization and transmission in healthcare settings. Here, Zhao et al. explore the mechanisms driving pathogen’s adherence to skin, involving a conserved adhesin, as well as the potential of collagen coatings as a strategy to reduce C. auris adherence to abiotic surfaces.

Pyramidal cells are classically thought to comprise the excitatory output of the subiculum. Here, the authors show the existence of “ovoid cells”, excitatory subiculum neurons with specialized gene expression, morphology, projections, and function.

Genome-wide association meta-analysis of AAA identifies 121 independent risk loci and highlights potential therapeutic targets such as proprotein convertase, subtilisin/kexin-type 9 (PCSK9).

Exploiting the peculiar properties of graphene, a series of high-performance glass-on-graphene devices, such as polarizers, thermo-optic switches and mid-infrared waveguide-integrated photodetectors and modulators are realized.