Articles

Analysis of clinical trial data suggests that CDK4/6 inhibitors prevent the expansion of TP53-mutant clones in the blood, potentially mitigating the risk of secondary myeloid neoplasms in patients treated with cytotoxic drugs.

An improved faba bean reference genome and resequencing of winter and spring faba bean accessions identify genetic determinants of winter hardiness.

Swave is a method to call structural variants from pangenome graphs using a recurrent neural network to identify structural variant patterns, including complex structural variants.

Genome-wide analyses identify 418 independent associations with autoimmune hypothyroidism and classify risk loci into distinct groupings related to systemic autoimmunity and thyroid-specific dysfunction.

Pico-C, a low-input Micro-C approach, reveals that dynamic three-dimensional genome folding precedes zygotic genome activation in Drosophila.

A genus-wide super-pangenome across 16 tomato species generated by integrating 20 telomere-to-telomere genome assemblies and 27 published genomes identifies structural variants associated with salinity or disease resistance for molecular breeding.

GGC repeat expansions causing oculopharyngeal myopathy with or without leukoencephalopathy are located in small open reading frames and translated into polyglycine proteins that form cellular aggregates, driving neuronal and muscle cell dysfunction.

Acute depletion of NIPBL reveals a class of chromatin loops that are independent of NIPBL for their maintenance but not their establishment and that NIPBL is necessary for the expression of lineage-defining genes.

This study analyses whole-genome sequencing data of cancer samples from 10,983 patients and explores relationships among mutational signatures, various biomarkers and clinical outcomes.

Genome-wide analyses in the Norwegian HUNT study with replication in Swedish and Finnish cohorts identify host genetic variants associated with gut microbiome features and provide evidence of a causal effect of body mass index on gut microbiota composition.

Population-based studies from Sweden with replication in Norway identify associations between host genetic variants and gut microbial composition and implicate short-chain fatty acid chemosensors as modulators of gut microbial richness.

Protein-activity-based identification of hypermorphic, hypomorphic, neomorphic effectors and therapeutically relevant mutations uses transcriptomic data to categorize variants of unknown significance into hypermorphic, hypomorphic and neomorphic mutations based on their effects on transcription factor activity and subsequent gene expression.

A graph-based pangenome constructed from 39 reference-quality genomes of wild and cultivated cucumber accessions, including 27 newly assembled, highlights the dynamics of structural variants during cucumber domestication and range expansion.

This paper uses multiomics to profile a large cohort of meningioma samples to highlight the role of the tumor microenvironment in driving the epigenetic changes underpinning tumor classification and prediction of outcome.

Genome-wide association analyses using data from 19 biobanks identify variants influencing risk of thyroid diseases and yield polygenic risk scores associated with features of aggressive thyroid cancer.

Acute perturbation of histone acetylation induces changes in chromatin organization that are only partially reversed once the perturbation is removed and are associated with transcriptional memory effects.

Antigen presentation in skull bone marrow by hematopoietic stem and progenitor cells induces myelopoiesis and generates CD4⁺ regulatory T cells in a mouse model of ependymoma, promoting immune tolerance. Treatment with anti-GM-CSF antibody has antitumor effects that are augmented by immunotherapy.

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.

Saturation genome editing of a cancer mutation hotspot in CTNNB1, the gene encoding β-catenin, reveals a gradient of effects of missense mutations on Wnt signaling.

Application of multiancestry and ensemble-based approaches yields improved polygenic risk prediction models for breast cancer and its subtypes among women of African ancestry.