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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.

Twisted bilayer (tb) MoTe₂ is an ideal platform for investigating the fractional quantum anomalous Hall effect but issues related to air sensitivity make the study of its electronic structure experimentally challenging. As a solution, the authors prepare hBN encapsulated tb-MoTe₂ and using micro-angle resolved photoemission spectroscopy determine the band structure. Furthermore, through in-situ alkali metal deposition, they obtain evidence indicating a direct band gap.

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.

Bismuth selenide has emerged as a model topological insulator system, but in the actual material surface-state band bending introduces complications. Here, the authors use defects as sensors in scanning tunnelling measurements to investigate the band bending and achieve its reduction by copper doping.

The spin-orbit interaction is central to the defining characteristics of topological insulators. Here, Jozwiaket al. report a spin-polarized unoccupied surface resonance coevolving with topological surface states from a pair of Rashba-like states through spin-orbit induced band inversion.

Experimental studies of hydrogen at high pressure are challenging, so theory is central to understanding its phase behaviour; however, computed phase diagrams do not agree with previous measurements. Here, the authors use a quantum Monte Carlo method and present results in qualitative agreement with experiment.

The authors find low-energy magnetic excitations and a flat band near the Fermi level in kagome metal superconductor CsCr3Sb5 by angle-resolved photoemission and resonant inelastic X-ray scattering. They suggest that the flat band plays a role in the emergence of charge/magnetic order at low temperatures.

Superionic water is believed to exist in the interior of ice giant planets. By combining machine learning and free-energy methods, the phase behaviours of water at the extreme pressures and temperatures prevalent in such planets are predicted.

The authors assess the risk of overshoot beyond 1.5 °C warming, using three scenarios with minimal overshoot, brief overshoot and sustained overshoot. They show a risk of long-term Amazon dieback, which begins as early as 1.3 °C warming but is largely mitigated by reducing temperature below 1.5 °C.

Simulations using machine-learning-based interatomic potentials in dense hydrogen overcome system size and timescale limitations, providing evidence of a supercritical behaviour of high-pressure liquid hydrogen and reconciling theoretical and experimental discrepancies.

Obtainment of hydrogen-rich metal hydrides that are high-temperature superconductors has been demonstrated under very high pressure, but is still largely unexplored. Here the authors synthesize CeH₉, with a structure related to solid metallic hydrogen, at relatively low pressure and without need for heating.

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.

Studies of the Earth's atmosphere have shown that more than 90% of xenon is depleted — the so-called missing Xe paradox. Now a theoretical study shows that Xe and Fe/Ni can form inter-metallic compounds of XeFe₃ and XeNi₃ under conditions found in the Earth's inner core, and could provide a solution to the puzzle.

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.

Polygenic risk scores can help identify individuals at higher risk of type 2 diabetes. Here, the authors characterise a multi-ancestry score across nearly 900,000 people, showing that its predictive value depends on demographic and clinical context and extends to related traits and complications.

Researchers employ machine learning-driven simulations to investigate the behavior of oxygen under extreme pressures up to 1,000 TPa. They identify stable phases and obtain information on the melting line and thermal properties of oxygen, improving our understanding of the structure and evolution of white dwarfs.

Under conditions of Earth’s deep lower mantle, hydrogen ions diffuse freely through the FeOOH lattice framework and electrical conductivity increases rapidly, according to electrical conductivity experiments and first-principles simulations.

Nonlinear transitions in permafrost carbon feedback and surface albedo feedback have largely been excluded from climate policy studies. Here the authors modelled the dynamics of the two nonlinear feedbacks and the associated uncertainty, and found an important contribution to warming which leads to additional economic losses from climate change.

Distinguishing band and Mott insulators experimentally represents a longstanding challenge. Here, the authors demonstrate a momentum-resolved signature of a dimerized Mott-insulator in the out-of-plane spectral function of Nb₃Br₈.

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.

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.

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.

Films of the correlated oxide NdNiO₃ form a metallic antiferromagnetic phase that can be identified using electrical currents, raising the prospect of applications in spintronics.

The authors predict the Pockels effect of ScAlN with varying Sc concentration, realizing a ScAlN-on-insulator-on-silicon material platform, which allows the formation of low-loss, electrically-tunable microring resonators for accurate measurement of ScAlN’s Pockels coefficients.

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.

Experiments that directly probe the quantum geometric tensor in solids have not been reported. Now, the quantum metric and spin Berry curvature—dual components of the quantum geometric tensor—have been simultaneously measured in reciprocal space.

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.

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.

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.

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.

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.

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.

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.

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

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.