Search

Making new decisions requires retrieving memories, but when this occurs is unclear. The authors show that people typically access memories before a choice unless there are many related memories to consider, in which case we wait until choice time.

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.

This study investigates whether genetic predisposition to systemic inflammation affects cortical thinning trajectories and the risk for psychopathology in adolescents, using data from the Adolescent Brain Cognitive Development Study.

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.

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.

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.

Extreme events — such as floods, droughts and heatwaves — are escalating in frequency, magnitude and duration. This Review discusses the implications of these global changes for biodiversity in rivers, across population, community and ecosystem scales.

Multiplexed error-robust fluorescence in situ hybridization (MERFISH) together with deep-learning-based nucleus segmentation enabled the construction of a highly detailed and informative spatially resolved single-cell atlas of human fetal cortical development.

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.

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

Characterizing quantum states is vital for quantum information or metrology tasks, but it remains challenging. Here, by a combination of weak and strong measurements, the authors directly measure the probability amplitudes of a pure state in the orbital angular momentum basis with dimensionality of 27.

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.

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.

Sediments accumulated in a subduction trench are usually unconsolidated and impede the updip propagation of fault rupture during an earthquake. Seismic images of the southern Sumatra–Andaman trench reveal blocks of consolidated sediment that may have enabled fault rupture in 2004 to propagate up fault dip, thus further seaward, increasing the tsunami magnitude.

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.

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.

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.

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.

Stable coating of filters with a thin liquid layer enhances adhesion of airborne particulates while maintaining high air permeability, resulting in longer lifetimes and higher efficiency of these filters.

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.

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.

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.

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.

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.

The existing ENCODE registry of candidate human and mouse cis-regulatory elements is expanded with the addition of new ENCODE data, integrating new functional data as well as new cell and tissue types.

Metazoans have evolved endocrine systems that signal through dimerized receptors in response to cognate hormones. These authors characterize a nematode homolog of such human receptors, presenting the cryo-EM structure of an asymmetric dimer that embodies properties of the human receptors.

During the early to mid-Holocene, Africa was more humid than today. Precipitation reconstructions from across Africa suggest that the termination of humidity was spatially variable, moving towards progressively lower latitudes.

Exotic six- and eight-particle excitonic complexes have recently been observed in 2D semiconductors. Here, the authors uncover a stable many-body exciton in WSe₂–comprising 20 interacting quasiparticles–that emerges when strong electrostatic doping fills the Q valley.

Amyloid plaques are a hallmark of Alzheimer’s disease. Better understanding of their biochemistry can inspire new biomarkers and therapeutics. Using multimodal mass spectrometry imaging, this work reveals surprising lipid heterogeneity in plaque microenvironments across the brain.

This study uncovers how light polarization governs ultrafast charge transfer between gold and gallium nitride (GaN), revealing a low-loss, nonthermal electron pathway that could advance solar energy conversion and optoelectronic technologies.

While methods for arylation of amines are well established, alkylation is a less well-developed process. Here, Hu and co-workers report amine alkylation using redox-active esters, using a combination of photoredox catalysis to generate the active electrophile and copper catalysis for the cross-coupling.

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities.

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 three-dimensional (3D) nanofabrication platform based on metalens-generated focal spot arrays is introduced to parallelize two-photon lithography beyond centimetre-scale write field areas, revealing the potential of 3D nanolithography towards wafer-scale production.

The authors show that only a small subset of cytosolic double-stranded RNAs (dsRNAs) requires ADAR1-mediated RNA editing to evade an MDA5-dependent immune response. These immunogenic dsRNAs are enriched in mRNAs and overlap with GWAS signals for common inflammatory diseases.

Chemical looping methane partial oxidation is an effective technology to produce syngas with a minimal energy penalty. Here, the authors design and develop a mesoporous silica supported nanoparticle oxygen carrier that enables a near 100% CO generation with high recyclability and substantially lower operating temperature.

How the carriers behave in a Weyl semimetal if they occupy the lowest Landau level remains elusive. Here, the authors report evidences of electrons occupying zeroth chiral Landau levels with distinct linear dispersion behaviors for two inequivalent Weyl nodes in a Weyl semimetal NbAs.

The potential for enhanced sediment delivery to the Ganges-Brahmaputra delta exists, but it alone is insufficient to sustain the system. The delta may be resilient to climate change, but only in the absence of dam construction and water diversions.

Using simultaneous EEG-PET-MRI, this study reveals tightly coupled physiological dynamics during the descent from wakefulness into NREM sleep and identifies network-specific activity underlying sensory arousal in NREM sleep.

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.

The ability to discover and optimise the synthesis of inorganic nanomaterials has significant impact on various fields, from sensing to medicine. Here, the authors use a genetic algorithm to drive a robotic platform toward a pre-defined, spectroscopic goal in order to discover and optimise the conditions for several nanoparticle shapes.

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.