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Liang et al. estimate the prevalence of text modified by large language models in recent scientific papers and preprints, finding widespread use (up to 17.5% of papers in computer science).

Natural variation in the courtship song of Drosophila is mapped to the intronic insertion of a retroelement at the slowpoke locus, which encodes an ion channel.

An inherently explainable AI trained on 1,015 expert-annotated prostate tissue images achieved strong Gleason pattern segmentation while providing interpretable outputs and addressing interobserver variability in pathology.

Traits responsible for recent niche divergence between sympatric threespine stickleback species are subjected to forward genetic analysis; additive variation at several loci across the genome accounts for most of the genetic basis of ecological divergence, with a further role for epistatic interactions that disadvantage hybrids.

A phase 1/2 trial of dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis, administered by bilateral intrathalamic, cisterna magna and intrathecal delivery found a dose-dependent biochemical correction of the disease.

Identifying genes involved in MYC-driven lymphoma reveals therapeutic vulnerabilities. Here, the authors show by using CRISPR knockout screens in primary cells in vivo that the GATOR1 complex suppresses MYC-driven lymphomagenesis, and that GATOR1-deficient lymphomas are sensitive to mTOR inhibitors.

Rare earth element and neodymium isotope data combined with models of particle cycling and sediment diagenesis suggest that the abyssal seafloor is a key driver of trace-metal biogeochemical cycles.

Sensory neuron population expansions are common in evolution but of unclear function. Here, the authors show that, in drosophilid olfactory systems, increased sensory neuron number impacts interneuron dynamics, but not sensitivity, to promote olfactory-guided behaviour.

Somatically determined preferential allelic expression of select genes that when mutated cause inborn errors of immunity corresponds with disease phenotypes, suggesting that the penetrance and expressivity of monogenic disorders is also dependent on the ‘transcriptotype’.

Genomic and phenomic screens of 827 wheat landraces from the A. E. Watkins collection provide insight into the wheat population genetic background, unlocking many agronomic traits and revealing haplotypes that could potentially be used to improve modern wheat cultivars.

In this study, Park, Haley, Le, Jung et al. perform a detailed characterization in vivo of metabolic flux distribution during thermogenesis and uncover brown fat nutrient fluxes and unexpected inter-organ metabolic crosstalk and glutamine utilization.

The RNA methyltransferase activity of SPOUT1/CENP-32 is crucial for accurate mitotic spindle organization. Here, the authors describe a neurodevelopmental disorder caused by bi-allelic pathogenic SPOUT1 variants with reduced activity and compromised function in spindle organization.

When cooled to the millikelvin scale, nanoelectronic structures can become thermally detached from their environment, limiting nanoscale electronic thermometry. Here, the authors demonstrate the robust cooling of optimally-designed Coulomb blockade thermometer devices down to the millikelvin scale.

Bilateral vestibular schwannomas (VS) are the main feature of NF2-related schwannomatosis, but the immunological landscape of VS is poorly understood. By performing imaging mass cytometry, the authors assess the cellular heterogeneity in VS tumours and reveal niche-dependent modes of T-cell regulation in these neoplasms.

Nerve injury activates microglia to remove spinal synapses, disrupting spinal sensory processing and contributing to chronic pain. Blocking complement protein C1q preserves synapses, highlighting a potential therapeutic target for neuropathic pain.

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

Ancient sulfate mineral compositions reflect an increase in Earth’s oxidation state ~400 million years ago, likely including an increase in atmospheric oxygen levels and shift in mineral weathering pathways.

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

Dissecting the adaptive exercise response of the neurogenic stem-cell niche in the dentate gyrus by single-nucleus RNA sequencing reveals the molecular mediators that underlie exercise’s protective effects in Alzheimer’s disease.

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

A consensus cell type atlas for the fly brain provides both an intellectual framework and open-source toolchains for brain-scale comparative connectomics.

Korobkina et al. show that ACLY in brown fat prevents metabolic overload in the tricarboxylic acid cycle, thus ensuring adequate thermogenesis by avoiding cellular stress.

The neuronal ceroid lipofuscinoses, or Batten disease, are a group of fatal inherited neurodegenerative lysosomal storage disorders. Despite having defined genetic causes, the underlying disease mechanisms remain poorly understood and treatments are limited. Cooper and colleagues highlight recent advances in understanding the cell biology and disease pathogenesis, which could inform future therapeutic development.

Trait introgression requires universal markers, but cross-species transferability of current SNP markers can be as low as 2%. Here, the authors use an AmpSeq haplotype strategy targeting the collinear core genome for marker development and show transferability increases to 91.4% in the Vitis genus.

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.

Differences in a non-coding enhancer region of the HOXDB locus underlie the differences between stickleback species in dorsal spine length and number. These differences include single-nucleotide polymorphisms, deletions and transposable element insertions.

Population genomic analyses of Midas cichlid fishes in young Nicaraguan crater lakes suggest that sympatric speciation is promoted by polygenic architectures.

The dopaminergic system has important roles in a number of cognitive process. Here, the authors use detailed analysis of dopamine transporter trafficking to show its levels at the cell surface are sensitive to changes in membrane potential.

RMC-7977, a multi-selective RAS(ON) inhibitor, exhibits potent tumour-selective activity in multiple pre-clinical models of pancreatic ductal adenocarcinoma through a combination of pharmacology and oncogene dependence.

Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.

An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.