Transcriptomics articles from across Nature Portfolio

By combining cell modeling and computational approaches, we identified a function for mutations in splicing factor genes in cancer. U2AF1 mutations are positively enriched in cancers with specific KRAS mutations and rescue splicing defects, leading to cascading selection of mutational events.

Single-cell and single-nuclei transcriptomics reveal cell type-specific expression in heart disease, but inter-study variation and low power limit comparisons. A study now presents HeartMap, an atlas of 2.4 million cells from healthy and diseased hearts, enabling robust disease, cell-type and patient-subgroup analyses.

Myotonia is a hallmark symptom of myotonic dystrophy (DM1). Eliminating myotonia in a DM1 mouse model improved muscle function and corrected transcriptome dysregulation, supporting myotonia as a driver of myopathy and a potential therapeutic target.

Patients with primary sclerosing cholangitis often manifest colon inflammation similar to ulcerative colitis (PSC-UC), but it is nevertheless pathologically distinct from conventional UC. Here the authors combine single cell sequencing, microbiota analysis and spatial transcriptomics on patient biopsies to dissect the molecular similarities and differences between PSC-UC and UC.

Multiomics profiling of extracorporeal cross-circulation with gene-edited pig liver xenografts in four human decedents provides comprehensive information on immune, coagulation and metabolic parameters that will help in the clinical development of this strategy for delivering hepatic support to patients with liver failure.

Exercise has an important role in healthy aging, yet the underlying molecular mechanisms are incompletely understood. Here the authors consider age, physical function and acute exercise in the context of the multiomics of human skeletal muscle, linking fitness to distinct aging profiles. Physically trained older individuals show ~50% fewer age-related differences and stronger exercise responses, and maintain expression of key energy metabolism and cellular respiration genes.

By combining cell modeling and computational approaches, we identified a function for mutations in splicing factor genes in cancer. U2AF1 mutations are positively enriched in cancers with specific KRAS mutations and rescue splicing defects, leading to cascading selection of mutational events.

Single-cell and single-nuclei transcriptomics reveal cell type-specific expression in heart disease, but inter-study variation and low power limit comparisons. A study now presents HeartMap, an atlas of 2.4 million cells from healthy and diseased hearts, enabling robust disease, cell-type and patient-subgroup analyses.

Spatial omics is moving from atlas-building to clinical translation, with the potential to reshape diagnosis, prognosis and therapy selection. Realizing this promise now requires scalable assays, standardized workflows, rigorous validation and regulatory-ready integration to convert spatial biology into practical tools for precision medicine.

Massive analyses of RNA transcripts from rodents, monkeys and humans reveal hallmarks of ageing that could expedite the development of anti-ageing interventions.

Spatial maps of gene expression in whole human embryos across several weeks of early development offer insights into the molecular programs that drive organogenesis.

Cellular-ageing clocks based on gene activity could be more sensitive than previous measures.