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A machine learning algorithm, developed to detect occlusion myocardial infarction with no-ST elevation from electrocardiogram, outperforms clinicians in diagnostic assessments.
Analyses of data from more than 200,000 individuals identify phenotypic features associated to carrying variants in autism-associated genes, in individuals with and without a diagnosis of autism.
In a phase 2, randomized clinical trial in patients with severe hypertriglyceridemia, pegozafermin, a long-acting analog of human fibroblast growth factor 21, was safe and met the primary endpoint of the trial for reducing serum triglyceride levels.
Using exome sequencing data from 104,733 postmenopausal women in the UK Biobank, an analysis of 105 gene variants previously reported as associated with premature ovarian insufficiency reveals that most cases are not monogenic.
Analyses of data from the UK Biobank reveal different urban living environments that are associated with affective, anxiety and emotional instability symptom groups and mediated by distinct neurological and genetic pathways in adults.
Multiomics analysis of right colon tissues identifies a distinct immune gene signature associated with greater risk of and shorter time to dysplasia in patients with primary sclerosing cholangitis, but not in patients with inflammatory bowel disease.
Response to anti-PD-1 in patients with hepatocellular carcinoma is associated with clonal expansion of intratumoral CXCL13+ CD4+ helper T cells and effector-like CD8+ T cells, and local dendritic cells enriched in expression of maturation and regulatory molecules help facilitate CD8+ T cell differentiation.
Clonal hematopoiesis of indeterminate potential (CHIP) was found to be associated with a protective effect from Alzheimer’s disease (AD) in large population-based cohorts.
Results from the LAVENDER phase 3 study demonstrate that trofinetide, a synthetic analog of glycine–proline–glutamate, provides significant therapeutic benefits in the core symptoms of Rett syndrome
The signaling-specific inhibitor AEF0117 selectively inhibits CB1 activation by THC and reduces self-administration and subjective effects of cannabis in clinical trials, making it a potential treatment for cannabis use disorder.
A report from the Australian Acute Care Genomics programme shows that the integration of rapid whole-genome sequencing and multi-omic analyses informs diagnoses and treatment decisions in a prospective cohort of 290 critically ill infants and children.
Observational analyses from the China Kadoorie Biobank found that alcohol consumption was associated with higher risks of 61 diseases in Chinese men, with most of these associations confirmed by genetic analyses.
Analysis of tumor samples from patients with nasopharyngeal carcinoma shows that gemcitabine plus cisplatin chemotherapy activates a unique population of innate-like B cells, which enhance the cytotoxic CD8+ T cell response and are associated with better clinical outcomes.
In patients with DNA damage response-deficient solid tumors, the oral ATR kinase inhibitor camonsertib was well tolerated; a recommended phase 2 dose was identified; and encouraging anti-tumor activity was observed, with the highest response rate observed in patients with ovarian cancer.
In a phase 2 trial of patients with untreated, recurrent and progressive brain metastases treated with an anti-programmed cell death protein 1 inhibitor, the overall intracranial benefit rate was 42.1%, which met the prespecified primary endpoint.
Genomic and cell-free DNA sequencing clarify the clinical diagnosis and inform treatment initiation in a cohort of 356 patients with vascular anomalies.
Analyses of large population-based cohorts and clinical trials show that using polygenic scores to account for variability in PSA levels improves detection of prostate cancer, suggesting an approach for enhancing screening accuracy.
A multi-ancestry genetic meta-analysis identifies 12 new loci associated with preeclampsia and gestational hypertension and proposes the integration of polygenic scores and clinical factors for disease prediction
A modified seed aggregation assay detects minute amounts of serum α-synuclein seeds in individuals with synucleinopathy, demonstrating high performance as a diagnostic biomarker.