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Rare coding variants that reduce the activity of a protein can have a beneficial impact on health. Here, researchers identify rare genetic variants in the CHRNB3 gene that associate with reduced cigarette smoking across diverse populations.

Natural products inspire the development of pseudo-natural products through combinations of fragments of compound classes that are chemically and biologically distinct. Here, the authors report a library of 244 pseudo-natural products, evaluate them in the cell painting essays and identify the phenotypic role of individual fragments.

Genome-wide association meta-analysis identifies 58 independent risk loci for major anxiety disorders among individuals of European ancestry and implicates GABAergic signaling as a potential mechanism underlying genetic risk for these disorders.

The protospacer-adjacent motif specificity of several Cas enzymes is customized using protein language models.

In this study, the authors develop a flavivirus vaccine strategy by introducing mutations into envelope glycoproteins resulting in structural changes that conceal the ADE-prone fusion loop epitope. They show that the Zika virus-specific construct protects mice against viral challenge and prevents ADE by Dengue virus.

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 structure and functioning of soil food webs between biomes remains unknown. Here, tropical soil food webs are shown to have higher energy flux, predation and herbivory than temperate soil food webs which are based on litter and microbial biomass.

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.

Regrowth of lost enamel in tooth decay and sensitivity is a major obstacle to overcome. Here, the authors report on a protein-based material that mimics features of natural enamel formation, allowing for epitaxial growth of apatite nanocrystals to restore enamel structure and function.

A dynamic interconversion of three nickel states in lithium nickel oxide is demonstrated using evidence from x-ray spectroscopic data and first-principles calculations, which explains many physical properties of this and similar materials.

To bypass the limitations of detergents, Ren et al. developed peptide scaffolds that extract membrane proteins directly into lipid nanodiscs, preserving the native environment for structural and functional studies of previously inaccessible membrane protein complexes

This study investigates the effects of forestation on temperature in Europe using climate model experiments. The findings indicate that conversion from coniferous to broadleaved trees in currently forested areas can provide cooling for summer hot extremes.

A recent synthesis study found 54% of the high-latitude peatlands have been drying and 32% have been wetting over the past centuries, illustrating their complex ecohydrological dynamics and highly uncertain responses to a warming climate.

Amorphous films with tunable thermal conductivity are needed for semiconductor/aerospace fields. Amorphous Al(Ti)N nanoparticles have negligible effect on thermal conductivity of Si₃N₄ 2 W m⁻¹K⁻¹, while incorporating crystal TiN phases increases to 15 W m⁻¹K⁻¹.

Genome-wide association meta-analyses of attention-deficit/hyperactivity disorder symptom measures and clinical diagnoses identify new risk loci, highlight putative effector genes and yield improved polygenic risk scores.

Analysis of 273 ancient horse genomes reveals that modern domestic horses originated in the Western Eurasian steppes, especially the lower Volga-Don region.

Analyses of 475 ancient horse genomes show modern horses emerged around 2200 bce, coinciding with sudden expansion across Eurasia, refuting the narrative of large horse herds accompanying earlier migrations of steppe peoples across Europe.

Humans have altered plant biogeography by introducing species from one region to another, but an analysis of how naturalized plant species affect the uniqueness of regional floras around the world was missing. This study presents an analysis using data from native and naturalized alien floras in 658 regions, finding strong taxonomic and phylogenetic floristic homogenization overall.

Copper-impurity-free Si₃N₄ photonic integrated circuits reduce thermal absorption and enable robust, deterministic soliton generation.

Recycling of sedimentary phosphorus driven by increasing oceanic sulfide availability contributed to the persistent oxygenation of Earth’s atmosphere, according to analysis of Archean drill-core samples and biogeochemical modelling

A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

The role of developmental pathways in medulloblastoma tumours (MB) with sonic hedgehog (SHH) activation remains to be explored. Here, the authors perform multi-omic analysis and characterise the key transcriptomic and metabolic patterns of highly differentiated cells in SHH MBs.

Phosphorus locked in ancient marine carbonates shows that ocean phosphorus rose and fell with atmospheric oxygen during the Great Oxidation Event, Earth’s first major oxygenation. Models suggest brief nutrient pulses could have accelerated oxygen production

The chemistry of group 13 metals (M) is dominated by +1 and +3 oxidation states, so MX₂ species are typically metal–metal-bonded dimers, M(II)₂X₄ or mixed-valence species M(I)M(III)X₄. Now, monomeric M(II)(boryl)₂ radicals have been prepared for gallium, indium and thallium. The compounds — structurally characterized by X-ray crystallography — are stable up to 130 °C and exhibit dominant metal-centred radical character.

An analysis involving the shotgun sequencing of more than 300 ancient genomes from Eurasia reveals a deep east–west genetic divide from the Black Sea to the Baltic, and provides insight into the distinct effects of the Neolithic transition on either side of this boundary.

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

They occupy fewer top positions at leading economics institutions than men, and are more likely to leave the profession early.

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.

Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.

The mechanisms regulating the balance between proliferation and differentiation in medulloblastomas with extensive nodularity (MBEN) remain poorly understood. Here, single cell multi-omics and spatial analysis characterises the spatial tissue organisation of MBEN in the context of the developmental trajectory.

Methods for generating macroscopic chiral matter struggle with limited scalability. Here, the authors show two vacuum filtration methods - twist stacking and mechanical rotation - to align carbon nanotubes into chiral structures at wafer scale with tunable circular dichroism.

A disease space is constructed from clinical records by embedding all diseases and considering a patient’s space coordinates as a measure of their health state. This measure was associated with 108 genetic loci, on which models were built to predict various morbidities.

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.

Multimode ultrastrong coupling between 3D photonic-crystal cavity modes and the cyclotron resonance of a 2D electron gas reveals distinct coupling scenarios governed by the cavity’s spatial profile and potential intermode ground-state correlations.

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.

The authors present a statistical and computational framework to identify allele-specific variants, i.e., single nucleotide variants exhibiting allele-specificity (allelic imbalance) in any type of omics assay. Application of this framework to thousands of datasets yields an atlas of chromatin altering variants in diverse cell types.

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.

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.

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.

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.