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A convolutional neural network model using feature extraction and machine-learning techniques provides a tool for classification of lung cancer histopathology images and predicting mutational status of driver oncogenes

The genetic architecture underlying brainstem regions and how this links to common brain disorders is not well understood. Here, the authors use MRI and GWAS data from 27,034 individuals to identify genetic and morphological brainstem features that influence common brain disorders.

Analysis with alleles encoding pharmacologically degradable Mediator subunits shows that Mediator acts as a global coactivator that facilitates transcription globally but is acutely required for cell-type-specific gene regulatory circuits.

Biomedical image analysis challenges have increased in the last ten years, but common practices have not been established yet. Here the authors analyze 150 recent challenges and demonstrate that outcome varies based on the metrics used and that limited information reporting hampers reproducibility.

Acute degradation of the BAF subunit SMARCA4 shows rapid chromatin accessibility changes, thus suggesting that maintenance of genome accessibility requires constant ATP-dependent remodeling.

Lyme borreliosis is challenging to diagnose, particularly in its early stages. Aptamers targeting CspZ from Borrelia, selected through cross-over SELEX, bind both the recombinant protein and bacteria, demonstrating potential for enhanced diagnostics.

A genome-wide analysis determines the contribution of DNA breaks and nuclear interactions to the formation of random versus recurrent translocations; whereas random translocations follow nuclear interaction profiles, the frequency of recurrent translocations is directly proportional to the amount of DNA damage at translocation partners.

This study investigates the ability to balance the energetic constraints of molting on land in a diving mammal, the southern elephant seal, the only phocid to experiment a catastrophic molt in a cold and windy environment.

Analysis of the FGF14-SCA27B repeat locus identifies a common 5′-flanking insertion that represents the major allele, is present exclusively on nonpathogenic alleles, enhances repeat stability and increases chromatin accessibility.

Multi-ancestry genome-wide association analyses for birth weight in 153,781 individuals identified 60 genomic loci in which birth weight and fetal genotype were associated and found an inverse genetic correlation between birth weight and cardiometabolic risk.

Circadian rhythms are known to modulate memory, but it’s not known whether clock genes in the hippocampus are required for memory consolidation. Here, the authors show that epigenetic regulation of clock gene Period1 in the hippocampus regulates memory and contributes to age-related memory decline, independent of circadian rhythms.

New computational tools reveal the contribution of microsatellite insertions and deletions to the mutational landscape in human cancer.

Polyamines such as spermidine and putrescine are known to promote autophagy and longevity in fruit flies. Similar to many other organisms, Drosophila also display age-induced memory impairment. Here, Gupta et al. find that a decrease in brain polyamines in aging Drosophila is correlated with age-dependent memory impairment. They also find that polyamines in flies' diet can alleviate this impairment, demonstrating a link between polyamines, autophagy and memory decline.

Two studies demonstrate that the methyltransferase KMT2D, which is recurrently mutated in several types of human B cell lymphoma, suppresses tumorigenesis by altering the epigenetic landscape of B cells; Kmt2d deletion in mice perturbs normal B cell development.

In this Review, the authors take the reader through the steps needed to analyze bisulfite-treated DNA, pointing out different considerations for data in base or color space, to ensure high-quality methylome analysis.

A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

A survey of λ-repressor mutants using a fluorescent reporter system reveals the chaperone DnaK response for protein quality control.

Brain-inspired neuromorphic algorithms and systems have shown essential advance in efficiency and capabilities of AI applications. In this Perspective, the authors introduce NeuroBench, a benchmark framework for neuromorphic approaches, collaboratively designed by researchers across industry and academia.

Myelin accelerates neural signaling by increasing axonal conduction velocity, but its impact on network dynamics remains unclear. The authors show that myelination implements a gain control mechanism, stabilizing neural dynamics away from oscillatory regimes, offering insights into its role in neural computation and disease.

Thyroid dysfunction is involved in many diseases. Here, the authors provide insights into the genetics and biological pathways influencing important thyroid function parameters, showing potential causal effects on many clinical outcomes.

Abnormal blood lipid levels are important risk factors for cardiovascular and other various diseases. Here the authors conduct a large-scale multi-ethnic epigenome-wide association study combined with epigenetic (cis-QTL and eQTM) data, and identify CpG-lipid traits associations that are specific to or common across racial/ethnic groups.

A genome-wide association study in ~3 million individuals identifies 3,952 independent variants associated with educational attainment. A polygenic index explains 12–16% of variance for this trait and contributes to risk prediction for ten diseases.

The physical distance between synaptic Ca²⁺ channels and sensors modulates short-term plasticity (STP). Here, the authors show that synaptic release factors Unc13A and Unc13B distinctly couple with Ca²⁺ channels and contribute to the neural decoding of distinct sensory information in Drosophila.

RETFound, a foundation model for retinal images that learns generalizable representations from unlabelled images, is trained on 1.6 million unlabelled images by self-supervised learning and then adapted to disease detection tasks with explicit labels.

DMRT transcription factors, key regulators of metazoan sexual development, use a unique DNA binding mode critical for male-to-female sex reversal in humans.

Genome-wide association analyses across individuals of East Asian and European ancestries identify new risk loci for inflammatory bowel diseases. A polygenic risk score derived from the combined datasets shows improved prediction accuracy.

Genome-wide association analyses identify new risk loci for allergic rhinitis and for sensitization to inhalant allergens. The associated regions implicate immune-related pathways, including innate and adaptive IgE-related mechanisms.

A cosmological simulation shows that low-mass galaxies can form with far less dark matter than expected, with results matching some observed characteristics. Roughly one-third of massive central galaxies may host at least one such dark-matter-deficient satellite.