Abstract Population genomic screening enables the identification of individuals at high risk of medically actionable conditions before disease onset, yet real-world feasibility studies are lacking. In
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Abstract Despite well-documented healthcare access disparities, their impact on electronic health record reliability and resulting clinical prediction models remains poorly understood. Here, analysing
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Abstract Smartphone-based digital trace data can offer powerful insights for identifying behavioural patterns and health risks. However, existing tools for comprehensive data collection lack scalabili
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Abstract Blinding eye diseases pose a substantial global health burden, yet current screening strategies are limited by resource demands and poor accessibility, particularly in underserved settings. L
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Abstract Here we analyse over 500,000 de-identified health-related conversations with Microsoft Copilot from January 2026 to characterize what people ask conversational artificial intelligence (AI) ab
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Abstract Heart failure (HF) involves cycles of remission and exacerbation, which are poorly characterized by static disease measures. Consumer wearables have an understudied potential for daily monito
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Abstract Adjunctive corticosteroids such as dexamethasone are recommended in tuberculous meningitis treatment, despite modest and heterogeneous survival benefit. Leukotriene A4 hydrolase (LTA4H) genot
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Abstract Down syndrome (DS), caused by trisomy of chromosome 21, is the leading genetic cause of intellectual disability, yet the mechanisms disrupting fetal brain development remain unclear. We perfo
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Abstract Heterozygous familial hypercholesterolemia is a common genetic disorder characterized by lifelong elevation of serum low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic
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Abstract Cancer interception is a preventative approach aiming to reduce cancer incidence by targeting precancers and early-stage cancers. Lynch syndrome (LS) is a prevalent hereditary cancer syndrome
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Abstract Tumor-infiltrating T cells have been the primary focus of cancer immunotherapy; however, accumulating evidence points to a critical role for B cells and plasma cells in shaping responses to i
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Abstract Patient-facing large language models (LLMs) hold potential to streamline inefficient transitions from primary to specialist care. We developed the preassessment (PreA), an LLM chatbot co-desi
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Abstract Psychedelic drugs are re-emerging as promising scientific and clinical tools. However, despite a rapidly expanding literature on their therapeutic value, the neural mechanisms underlying psyc
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Abstract The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual
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Abstract Here we describe the feasibility and first implementation of a mandatory, citywide premarital genomic screening program comprising the sequencing of 782 genes, implicated in autosomal recessi
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Abstract Nongenetic exposures comprising the ‘exposome’, including diet, lifestyle, infections and pollutants, shape many clinical phenotypes yet the evidence remains fragmented. Here we conducted an
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Abstract LRRK2 (encoding leucine-rich repeat kinase 2) variants are the most common genetic cause of Parkinson’s disease (PD). Lowering LRRK2 levels and/or inhibiting LRRK2 activity may modify PD-asso
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Abstract KCNT1-related epileptic encephalopathy, including epilepsy of infancy with migrating focal seizures, is a severe neurodevelopmental disorder associated with refractory seizures, profound neur
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Abstract Artificial intelligence (AI) systems have been demonstrated to improve the accuracy of screening mammograms. Here this prospective, paired, noninferiority clinical trial evaluated whether AI
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Abstract Cancer generally takes years to evolve, and early diagnosis can prevent life-threatening cancer. Establishing a link between precancerous states and cancer is essential for effective screenin
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Abstract Individuals of African ancestry carrying APOL1 (apolipoprotein L1) high-risk genotypes face a markedly increased risk of kidney failure, yet tools to identify those individuals likely to prog
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Abstract Elevated blood levels of phosphorylated tau (p-tau) are diagnostic of Alzheimer disease and are associated with the deposition of amyloid-β in the cerebral neuropil. Elevated p-tau levels hav
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Abstract Background Next-generation sequencing (NGS) tests are integral to oncology care. To address the need for clinical and NGS data management, interpretation, and reporting, we developed iCatalog
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Abstract Background Medulloblastoma (MB), the most common malignant pediatric brain tumor, lacks prognostic tools integrating clinical, molecular, and treatment-related characteristics for individuali
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Abstract Background Tuberculosis (TB) is one of the leading causes of death worldwide, even though it is curable using antibiotics. Most people who die of TB never begin treatment because diagnostics
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Abstract Background An increasing number of children and adults who are deaf are receiving cochlear implants in both ears (bilateral CIs or BiCIs), promoting the possibility of access to binaural cues
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Abstract Background With the advent of genomic technologies, pharmacogenomics has evolved significantly. Such advancement facilitates comprehensive identification of common and rare alleles crucial fo
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Abstract Background Despite rapid advances in treatment, breast cancer remains the leading cause of cancer mortality in women, with triple negative breast cancers having a particularly poor prognosis.
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Nalmefene and naltrexone are two drug treatments for alcohol use disorder, but disagreement exists on which is more effective. Despite ongoing controversy, treatment outcomes have only been compared a
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