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While quantum computers have strong potential for quantum-many-body simulations, demonstrating an advantage for systems of practical relevance is still a challenge. Here, the authors show that quantum computers can efficiently sample thermal states of weakly and strongly interacting fermions – which is notoriously hard for classical Monte Carlo methods due to the fermionic sign problem.

Biallelic variants in RNU4-2 cause a recessive neurodevelopmental disorder that is phenotypically and molecularly distinct from dominant ReNU syndrome and associated with reduced RNU4-2 transcript levels, consistent with a loss-of-function mechanism.

The role of disorder in high-entropy oxides in electrocatalysis and zinc–air batteries remain unclear. Here, the authors induce controlled multilevel structural, electronic and atomic disorder to create new active sites, enabling robust, balanced oxygen catalysis and efficient zinc–air batteries.

Understanding the physical origin on hysteresis in organic electrochemical transistors is important for achieving non-volatility. Here, the authors report a thermodynamic framework that explains the emergence of bistable device operation via the interplay of enthalpy and entropy.

Chlorine electrosynthesis from seawater is limited by poor selectivity and stability under industrial-scale conditions. Here atomic-step-enriched ultrafine high-entropy alloy nanowires enable highly efficient chlorine evolution at 10 kA m⁻² for over 5,500 h through dynamic Pt–O active sites, reducing electricity consumption and feedstock costs for next-generation chlor-alkali processes.

The APOE-ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, but it is not deterministic. Here, the authors show that common genetic variation changes how APOE-ε4 influences cognition.

Though models describing the operating mechanism of organic electrochemical transistors (OECTs) have been developed, these models are unable to accurately reproduce OECT electrical characteristics. Here, the authors report a thermodynamic-based framework that accurately models OECT operation.

The valorization of glycerol to propylene glycol is economically attractive but involves high hydrogen pressures. Here, the authors report a thermo-electroreduction strategy using a cobalt-cluster-on-copper catalyst, which enables propylene glycol production even at ampere level current density.

This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

Generating new sensible molecular structures is a key problem in computer aided drug discovery. Here the authors propose a graph-based molecular generative model that outperforms previously proposed graph-based generative models of molecules and performs comparably to several SMILES-based models.

Combining time-resolved IR spectroscopy, activation energy analyses, and computations, authors provide mechanistic insight into genetically altered reaction kinetics of light-driven oxygen evolution in photosystem II.

The melting temperature of hydrogen drops at high pressures, which suggests the possible emergence of a low-temperature liquid state of metallic hydrogen. Chen et al.confirm the existence of this phase in simulations and show how the quantum motion of the protons has a critical role in its stabilization.

A challenge with the use of metal anodes in batteries is their inability to sustain structural stability, especially at high currents. Here the authors examine electrochemomechanical properties of metal anodes and demonstrate an effective semi-solid electrode approach at practically relevant conditions.

The ambiphilic reactivity of alkyl sulfonyl fluorides in stereoselective cyclopropanation under Pd(II) catalysis is reported. The method provides convenient access to cis-disubstituted cyclopropanes that are otherwise challenging to access. A representative carboxylic acid cyclopropane building block is scaled up to 100 mmol, demonstrating the practicality of this transformation.

The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

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.

The extent to which chemical products of water radiolysis could sustain subseafloor microbial life is unknown. Here the authors show that sediment catalyzes radiolytic production of H₂ and oxidants, providing the primary energy source for life in ancient marine sediment.

Researchers discovered five phases of brain rewiring across the lifespan. The eras of childhood, adolescence, adulthood, early aging, and late aging each have characteristic rewiring of structural connections across the whole brain.

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

Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the promisesthat this voyage of discovery bore. Its success should be measured by how this project transformed the rules of research, the way of practising biological discovery and the ubiquitous digitization of biological science.

At the nanoscale, elastic strain and crystal defects largely influence the properties and functionalities of materials. Here, the authors report an unusual twin boundary migration process in a single platinum nanoparticle during carbon monoxide oxidation using Bragg coherent diffraction imaging.

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.

The synthesis of molecular knots remains challenging. Here, the authors report the synthesis of a chiral molecular trefoil metallaknot by self-assembly which contains only 54 atoms in the backbone.

The mechanisms that regulate the electrochemical equilibrium of condensates are not well understood. Now it has been shown that the aging process of biomolecular condensates can dynamically modulate the electrochemical equilibrium between phases, thereby affecting the physicochemical functions of condensates. This process potentially provides an active mechanism modulating intracellular ion flux.

Water-vapor interfaces have been studied with many techniques, yet open questions persist about their electronic and molecular structure. Here, the authors demonstrate the application of soft x-ray second harmonic generation to study the water surface by leveraging attosecond pulses at the LCLS and a flat liquid sheet microjet, providing insights on the H-bond structure.

This Perspective establishes a comprehensive and practical framework to guide intrinsically disordered protein (IDP) ensemble determination, benchmarking and interpretation, as well as proposes a roadmap for IDP ensemble determination, uncertainty quantification and actionable benchmarking strategies.

In this study, the capabilities of fragment-based Grand Canonical Nonequilibrium Candidate Monte Carlo (GCNCMC) to uncover experimentally validated, occluded fragment binding sites is demonstrated. The method also accurately samples multiple binding modes and calculates binding affinities without any prior structural knowledge.

Asymmetric glucose tracers reveal the simultaneous use and unique benefits of parallel glycolytic pathways. Cells possessing both textbook glycolysis and Entner–Doudoroff glycolysis have a selective advantage in dynamic environments.

A flavin-dependent halogenase with a remarkable preference for iodination has now been discovered. The halogenase (VirX1) was discovered using a bioinformatics-based approach and comes from a cyanophage. Structural characterization and kinetic studies show that VirX1 possesses broad substrate tolerance, making it an attractive tool for synthesis.

An asymmetric pentalene-containing C₁(51383)-C₈₄ fullerene cage is found in two different metal carbide metallofullerenes. This particular cage can, in simple steps, rearrange into many well-known fullerene cages that are more stable and more symmetric, suggesting it is likely that metallofullerenes are generated by a ‘top-down’ formation mechanism.

The Cancer Genome Atlas Research Network reports an integrative analysis of more than 400 samples of clear cell renal cell carcinoma based on genomic, DNA methylation, RNA and proteomic characterisation; frequent mutations were identified in the PI(3)K/AKT pathway, suggesting this pathway might be a potential therapeutic target, among the findings is also a demonstration of metabolic remodelling which correlates with tumour stage and severity.

Superionic states of matter simultaneously exhibit some of the properties of a liquid and of a solid. Detailed numerical simulations predict two superionic phases in mixtures of helium and water.

Ancient valleys suggest a warm early Mars where liquid water flowed, but a greenhouse effect strong enough to offset a dim early Sun has been difficult to explain. Climate simulations suggest that sufficient concentrations of the greenhouse gases CO₂ and H₂ — outgassed during volcanic eruptions — could have warmed Mars above water’s freezing point.

Understanding degradation mechanisms in perovskite solar cells is key to their development. Now, Guo et al. show a greater degradation of the perovskite structure and morphology for devices operated under vacuum than under nitrogen.

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.