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This study used fine-mapping to analyze genetic regions associated with bipolar disorder, identifying specific risk genes and providing new insights into the biology of the condition that may guide future research and treatment approaches.

Federated learning, a method for training artificial intelligence algorithms that protects data privacy, was used to predict future oxygen requirements of symptomatic patients with COVID-19 using data from 20 different institutes across the globe.

Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.

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Two related studies describe a newly discovered cranium of Australopithecus anamensis, the environment in which this hominin would have lived approximately 3.8 million years ago and how it is related to Australopithecus afarensis.

Cost-optimal European energy transition with CO₂ and methane neutrality objective is studied. While renewables are the key drivers of climate neutrality, the continuous role of natural gas requires high levels of both CO₂ and methane abatement.

During meiotic prophase chromosomes organise into a series of chromatin loops, but the mechanisms of assembly remain unclear. Here the authors use Saccharomyces cerevisiae to elucidate how this elaborate three-dimensional chromosome organisation is linked to genomic sequence, and demonstrate an essential role for cohesin during this process.

A transcriptomic analysis of 8 tissues across 20 bilaterian species reveals that ancestral gains of tissue-specific gene expression were closely associated with whole-genome duplications in vertebrates and the diversification of ancestral tissue types.

Pancreatic cancer progression is driven by a switch from HNF4G-driven transcriptional activity in primary disease to FOXA1-mediated transcription in the metastatic setting.

The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of babies.

Ahead of his 80th birthday, Michele Parrinello, Principal Investigator of Atomistic Simulations at the Italian Institute of Technology (IIT), discussed his career in science exploring chemical fundamentals and modelling molecular dynamics.

Analysis of ancient human DNA from the Swahili coast reveals that predominantly African female ancestors and Asian male ancestors formed families after around ad 1000 and lived in elite communities in coastal stone towns.

Knowledge of genetic variants that underlie ecological selection against hybrids is crucial for understanding speciation. This study identified loci that underlie hybrid viability and seasonal migration in a hybrid zone between songbirds with different migratory behavior.

Here the authors apply machine learning approaches to Alzheimer’s genetics, confirm known associations and suggest novel risk loci. These methods demonstrate predictive power comparable to traditional approaches, while also offering potential new insights beyond standard genetic analyses.

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.

Here, in 3 cohorts of allogeneic stem cell transplant recipients, each receiving FMT from 1 of 3 stool donors for graft-versus-host disease prophylaxis, the authors show that microbiota and clinical outcomes are associated with the specific donor used, suggesting a donor effect with implications for FMT donor selection.

The evolution of the vertebrate head mesoderm involved the emergence of new structures and cell types. Here the authors generated a cell atlas of the cephalochordate neurula to study the origins of these novelties and propose a revised scenario for the evolution of the vertebrate head muscles.

Head and neck squamous cell carcinoma (HNSCC) frequency and risk factors vary considerably across regions and ancestries. Here, the authors conduct a multi-ancestry genome-wide association study and fine mapping study of HNSCC subsites in cohorts from multiple continents, finding susceptibility and protective loci, gene-environment interactions, and gene variants related to immune response.

A systematic review, combined with a stakeholder survey, presents an overview of current practices and recommendations for dataset curation in health, with specific focuses on data diversity and artificial intelligence-based applications.

Deadenylation leads to mRNA decay, with PABPC1 protecting the poly(A) tail, while tristetraprolin and CCR4–NOT promote deadenylation. Here, the authors describe how these three proteins interact to regulate mRNA stability.

Accurate cell type annotation is a major challenge in single-cell and spatial omics. Here, authors present a user-friendly platform providing robust automatic annotation and enhanced biological interpretation of single-cell and spatial populations in health and disease.

Analysis of 97,691 high-coverage human blood DNA-derived whole-genome sequences enabled simultaneous identification of germline and somatic mutations that predispose individuals to clonal expansion of haematopoietic stem cells, indicating that both inherited and acquired mutations are linked to age-related cancers and coronary heart disease.

A clinical study of women with abnormal breast mammograms establishes a workflow to evaluate the capability of breast photoacoustic computed tomography in the classification, monitoring and segmentation of lesions.

The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

Systematic characterization of longitudinal tau variability in human Alzheimer’s disease using an unbiased subtyping algorithm reveals four trajectories of tau deposition with distinct clinical features.

Mathematical modelling of 15 years of data from South Africa reveals the spread and vaccine-driven changes in fitness and antimicrobial resistance of Streptococcus pneumoniae.

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

Comparative analysis of DTC gut microbiome testing services reveals significant methodological variability, underscoring the need for standardized reference materials and guidelines to ensure reproducibility and reliability in commercial microbiome testing.

Peng et al. show that DLL1-expressing muscle myoblasts not only regulate NOTCH signaling in neighbor cells but also send a retrograde signal to themselves via the DLL1 intracellular domain.

Stratified medicine promises to tailor treatment for individual patients, however it remains a major challenge to leverage genetic risk data to aid patient stratification. Here the authors introduce an approach to stratify individuals based on the aggregated impact of their genetic risk factor profiles on tissue-specific gene expression levels, and highlight its ability to identify biologically meaningful and clinically actionable patient subgroups, supporting the notion of different patient ‘biotypes’ characterized by partially distinct disease mechanisms.

4D-scanning transmission electron microscopy uses diffractive imaging for structural studies. Here, authors study single particle cryo-EM protein samples at up to 5.8 Å resolution, using 4D-STEM and ptychography data processing.

An analysis of satellite data from July 2002–June 2022 shows that ocean colour, or remote-sensing reflectance, changed significantly during this period, and that this trend is likely to be driven by climate change.

Tang, Chen, Qian et al. present a multimodal, interpretable dimension reduction framework called SpaHDmap, which leverages histology images and enhances the resolution of spatial transcriptomics, thus enabling the dissection of complex tissue structures.

In this Perspective, authors from the Polygenic Risk Methods Development (PRIMED) Consortium highlight the ethical and analytical impact of population descriptors in polygenic risk score development and advocate for documenting detailed justifications.

Alterations in the tumour suppressor genes STK11 and/or KEAP1 can identify patients with advanced non-small-cell lung cancer who are likely to benefit from combinations of PD-(L)1 and CTLA4 immune checkpoint inhibitors added to chemotherapy.

An analysis of the impact of logging intensity on biodiversity in tropical forests in Sabah, Malaysia, identifies a threshold of tree biomass removal below which logged forests still have conservation value.

Martín-Arana et al. present a highly sensitive tumor-agnostic assay to detect minimal residual disease based on whole-exome sequencing of longitudinal circulating tumor DNA samples from persons with relapsed colon cancer and on genomic data from metastases.

Gonadal fate in mammals is determined during embryogenesis and is actively maintained in adulthood. This study shows that E3-SUMO ligase activity of TRIM28 is required for ovarian identity maintenance and testicular-specific gene repression in mouse adult ovary; in its absence, ovarian granulosa cells transdifferentiate to Sertoli cells.

Stéphanie Baulac and colleagues report the identification of mutations in the DEPDC5 gene that cause focal epilepsies.

Comprehensive integration of gene expression with epigenetic features is needed to understand the transition of kidney cells from health to injury. Here, the authors integrate dual single nucleus RNA expression and chromatin accessibility, DNA methylation, and histone modifications to decipher the chromatin landscape of the kidney in reference and adaptive injury cell states, identifying a transcription factor network of ELF3, KLF6, and KLF10 which regulates adaptive repair and maladaptive failed repair.

A small clinical study shows that adaptive deep brain stimulation (DBS), based on real-time brain activity, for Parkinson’s disease significantly improved motor symptoms and quality of life compared with conventional DBS.

Two types of on-chip silicon device utilizing silicon T centres are developed: an O-band light-emitting diode and an electrically triggered single-photon source. Further, a new method of spin initialization with electrical excitation is demonstrated.

Visual attention requires top-down modulation from the frontal eye fields to change cortical excitability of visual cortex. Here, the authors show that these top-down signals shape perception through mechanisms of oscillatory phase realignment at the beta frequency.

Pregnant individuals are at higher risk of SARS-CoV-2-related morbidity and mortality, yet more studies are needed to evaluate safety and efficacy of vaccination during pregnancy, and also the level of protection provided to the newborn. Here, the authors evaluate transplacental transfer of mRNA vaccine products and functional SARS-CoV-2 antibodies during pregnancy and early infancy.