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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.

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.

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.

The lowest-frequency gravitational wave background may be shaped by supermassive black hole binaries that scatter nearby stars or dark matter. In this case, the NANOGrav 15-year dataset favours dense galactic centres with 10⁶ solar masses per cubic parsec.

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

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.

When doubly-degenerate band crossings known as Kramers nodal lines intersect the Fermi level, they form exotic three-dimensional Fermi surfaces composed of massless Dirac fermions. Here, the authors present evidence that the 3R polytypes of TaS₂ and NbS₂ are Kramers nodal line metals with open octdong and spindle-torus Fermi surfaces, respectively.

Conventional ammonia synthesis is energy intensive. Here the authors explore the mechanism of light-driven ammonia synthesis through in situ spectroscopy and modelling, and demonstrate that certain AuRu plasmonic alloys are promising catalysts for this potentially more sustainable process.

Conventional solid-state electrolyte design is limited by dopant–lattice compatibility. This work introduces solid dissociation, using halide van der Waals materials to dissolve salts and create amorphous conductors with high ionic conductivity and potential for use in devices.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Crystal growth is visualized inside non-transparent liquid metals, while preserving their original state, using X-ray micro-computed tomography to reveal how liquid metal solvent composition and cooling conditions influence crystal formation.

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.

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.

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.

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.

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 standard band structure picture cannot be applied to amorphous materials as they lack crystal symmetry. Now a first-principles approach that captures the possibility of band-like electron transport in amorphous solids is presented, with In₂O₃ as an example.

A method of nanometre-level patterning of high-density extended 1D and 2D defects in thin films of perovskite oxides is developed.

The spectrally narrow photoluminescence lines occurring in transition metal dichalcogenides (TMD) heterostructures at low temperature have been attributed to interlayer excitons (IXs) localized by the moiré potential between the TMD layers. Here, the authors show that these lines are present even when the moiré potential is suppressed by inserting an hBN spacer between the TMD layers.

Although heterogeneous ice nucleation is investigated in a number of fields, a mechanism for the process remains elusive. Ice with a pentagon-based chain structure is now seen to form on a Cu(110) surface, revealing that the structure of ice–water films can adapt to maximize water–metal bonding and achieve strong hydrogen bonding within the layer.

Tuning the bandgap of complex transition metal oxides in a manner that preserves their intrinsic properties has so far remained elusive. Choiet al. demonstrate that the bandgap of bismuth titanate can be varied by substitutional alloying with lanthanum cobaltate, without altering its ferroelectric properties.

Here, the authors examine the mechanisms behind cheatgrass’s successful invasion of North American ecosystems. Their genetic analyses and common garden experiments demonstrate that multiple introductions and migrations facilitated cheatgrass local adaptation.

Crown ethers have been used as strong and selective binders for alkali metals and other cations since their discovery. Here the authors observe crown ether type structures in partially oxidized graphene and through simulations predict that they have similar abilities to selectively bind cations.

The electroreduction of CO₂-derived CO is a promising technology for the sustainable production of value-added chemicals. Now, it is shown how C–N bonds can be formed electrochemically through CO electroreduction on a Cu surface in the presence of amines. The formation of acetamides is observed through nucleophilic addition to a ketene intermediate.

Crystal structures with two sublattice pairs per primitive cell can host so-called dark states which interact minimally with light due to destructive interference. Here, the authors reveal that in the semiconductor (NbSe₄)₃I these states lead to an indirect-gap optical behavior, despite the band structure displaying an almost direct band gap, having significant impact on its optoelectronic properties.

Cross-species studies show that loss of the synaptic adhesion molecules beat-Ia/CADM2 causes excessive sleepiness by disrupting development of wake-promoting NPF/NPY brain circuits. Targeting NPY signaling may offer treatment for human hypersomnia.

Mechanistic insights into a photocatalyst with an intramolecular junction and two different active sites could inspire further exploration of ‘intramolecular heterojunctions’ as the basis of selective and stable photocatalysts for C–H activation and C–C coupling.

Low-k dielectric materials are essential to allow continued electronics miniaturization, but their low thermal conductivity limits performance. Here, two-dimensional covalent organic frameworks are shown to combine high thermal conductivity with a low dielectric constant.

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.

The electrostatic interactions in aqueous ionic media are screened by mobile charge carriers, limiting device design and operation speed. Here the built-in electric field is leveraged to dope ions into vanadium dioxide, triggering a surface insulator-to-metal transition, further enabling high-speed in-memory sensing in aqueous solutions.

Experimental measurements of high-order out-of-time-order correlators on a superconducting quantum processor show that these correlators remain highly sensitive to the quantum many-body dynamics in quantum computers at long timescales.

Electrified reactive capture converts CO₂ from carbonate solutions but suffers from low Faradaic efficiency. Here, the authors report a templated synthesis with defined pores and Ni single atoms to accumulate CO₂, achieving 46% energy efficiency to syngas at 300 mA/cm²

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

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.

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.

Oxygen production using electrolysis will be critical for life support and refueling on the Moon and Mars. Herein, electrolysis under lunar and Martian gravity was found to be less efficient than electrolysis under Earth’s gravity, and predictable from data obtained using ground-based systems.