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cs.AI, q-bio.NC updates on arXiv.org
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VaultGemma: A Differentially Private Gemma Model
arXiv:2510.15001v2 Announce Type: replace-cross Abstract: We introduce VaultGemma 1B, a 1 billion parameter model within the Gemma family, fully trained with differential privacy. Pretrained on the identical data mixture used for the Gemma 2 series, VaultGemma 1B represents a significant step forward in privacy-preserving large language models. We openly release this model to the community
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Nature - Issue - nature.com science feeds
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Parity and lactation induce T cell mediated breast cancer protection
Nature, Published online: 20 October 2025; doi:10.1038/s41586-025-09713-5Parity and lactation induce T cell mediated breast cancer protection
Parity and lactation induce T cell mediated breast cancer protection
Nature, Published online: 20 October 2025; doi:10.1038/s41586-025-09713-5
Parity and lactation induce T cell mediated breast cancer protection-
Journal of Medical Internet Research
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Framework for the Development and Delivery of Digital Peer Support Programs: Qualitative Study on in-Person and Digital Delivery for People With Cardiovascular Disease
Background: Peer support (sharing experiences/support with others with the same condition) improves health outcomes among people with cardiovascular disease (CVD), including self-management behaviours and self-efficacy. However, current peer support interventions are diverse. Evidence is lacking on peer support attenders perceptions of benefits and the elements that are considered priorities, especially for digital interventions. Objective: The study objectives were to 1) describe perceived bene
Framework for the Development and Delivery of Digital Peer Support Programs: Qualitative Study on in-Person and Digital Delivery for People With Cardiovascular Disease
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Nature Biotechnology - Issue - nature.com science feeds
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Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
Nature Biotechnology, Published online: 16 October 2025; doi:10.1038/s41587-025-02839-xSomatic small variants in cancer genomes are identified in both short-read and long-read data.
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
Nature Biotechnology, Published online: 16 October 2025; doi:10.1038/s41587-025-02839-x
Somatic small variants in cancer genomes are identified in both short-read and long-read data.-
Nature - Issue - nature.com science feeds
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Efficient and accurate search in petabase-scale sequence repositories
Nature, Published online: 08 October 2025; doi:10.1038/s41586-025-09603-wMetaGraph enables scalable indexing of large sets of DNA, RNA or protein sequences using annotated de Bruijn graphs.
Efficient and accurate search in petabase-scale sequence repositories
Nature, Published online: 08 October 2025; doi:10.1038/s41586-025-09603-w
MetaGraph enables scalable indexing of large sets of DNA, RNA or protein sequences using annotated de Bruijn graphs.-
(Multiomics OR Omics) AND (Lung OR gastric OR Hepatocellular)
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Pathobiology and Genetics
Pneumologie. 2025 Oct;79(10):701-711. doi: 10.1055/a-2625-4648. Epub 2025 Oct 6.ABSTRACTGenetics and pathobiology were addressed at the 7th World Symposium on Pulmonary Hypertension in Task Forces 2 and 3. The Genetics Task Force also focused on precision medicine approaches, and the Pathobiology working group concentrated heavily on new omics technologies. Therefore, the following not only summarises the current state of knowledge on genetics, genetic testing methods, and molecular pathophysiol
Pathobiology and Genetics
Pneumologie. 2025 Oct;79(10):701-711. doi: 10.1055/a-2625-4648. Epub 2025 Oct 6.
ABSTRACT
Genetics and pathobiology were addressed at the 7th World Symposium on Pulmonary Hypertension in Task Forces 2 and 3. The Genetics Task Force also focused on precision medicine approaches, and the Pathobiology working group concentrated heavily on new omics technologies. Therefore, the following not only summarises the current state of knowledge on genetics, genetic testing methods, and molecular pathophysiological changes, but also places it in context and critically discusses it. In addition, the importance of national and international biobanks and cohorts, as well as the active involvement of patients and families, is emphasized.
PMID:41052524 | DOI:10.1055/a-2625-4648
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Journal of Medical Internet Research
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Evaluating Large Language Models and Retrieval-Augmented Generation Enhancement for Delivering Guideline-Adherent Nutrition Information for Cardiovascular Disease Prevention: Cross-Sectional Study
Background: Cardiovascular disease (CVD) remains the leading cause of death worldwide, yet many web-based sources on cardiovascular (CV) health are inaccessible. Large language models (LLMs) are increasingly used for health-related inquiries and offer an opportunity to produce accessible and scalable CV health information. However, because these models are trained on heterogeneous data, including unverified user-generated content, the quality and reliability of food and nutrition information on
Evaluating Large Language Models and Retrieval-Augmented Generation Enhancement for Delivering Guideline-Adherent Nutrition Information for Cardiovascular Disease Prevention: Cross-Sectional Study
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Journal of Medical Internet Research
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The Role of Data in Public Health and Health Innovation: Perspectives on Social Determinants of Health, Community-Based Data Approaches, and AI
Public health is undergoing profound transformation driven by data from the global health sector and related fields. To address systemic health disparities, scholars and practitioners are increasingly applying a data equity lens, an approach that has become even more urgent as the United States faces the erosion of public health data infrastructure. This paper summarizes insights from an April 2024 convening by the Yale School of Public Health—The Role of Data in Public Health Equity and Innovat
The Role of Data in Public Health and Health Innovation: Perspectives on Social Determinants of Health, Community-Based Data Approaches, and AI
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Nature Medicine
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Generative artificial intelligence in medicine
Nature Medicine, Published online: 06 October 2025; doi:10.1038/s41591-025-03983-2This Review summarizes recent technical advancements in generative AI, outlines how new models might improve healthcare and discusses validation approaches—using lessons from recent successes and failures in the field.
Generative artificial intelligence in medicine
Nature Medicine, Published online: 06 October 2025; doi:10.1038/s41591-025-03983-2
This Review summarizes recent technical advancements in generative AI, outlines how new models might improve healthcare and discusses validation approaches—using lessons from recent successes and failures in the field.-
Journal of Medical Internet Research
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Exploring Attitudes and Obstacles Around Digital Public Health Tools: Insights From a Statewide Cross-Sectional Survey on Washington’s Vaccine Verification System
Background: Development and use of digital public health tools surged during the COVID-19 pandemic. Among these tools, vaccine verification systems emerged as alternatives to paper vaccine records, aiming to help limit the spread of disease. In November 2021, the Washington State Department of Health launched “WA Verify,” a QR code–based vaccine verification system built on the SMART Health Card framework, providing residents with a convenient way to store and share proof of vaccination digitall
Exploring Attitudes and Obstacles Around Digital Public Health Tools: Insights From a Statewide Cross-Sectional Survey on Washington’s Vaccine Verification System
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Nature - Issue - nature.com science feeds
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The Biodiversity Cell Atlas: mapping the tree of life at cellular resolution
Nature, Published online: 24 September 2025; doi:10.1038/s41586-025-09312-4The Biodiversity Cell Atlas aims to create comprehensive single-cell molecular atlases across the eukaryotic tree of life, which will be phylogenetically informed, rely on high-quality genomes and use shared standards to facilitate comparisons across species.
The Biodiversity Cell Atlas: mapping the tree of life at cellular resolution
Nature, Published online: 24 September 2025; doi:10.1038/s41586-025-09312-4
The Biodiversity Cell Atlas aims to create comprehensive single-cell molecular atlases across the eukaryotic tree of life, which will be phylogenetically informed, rely on high-quality genomes and use shared standards to facilitate comparisons across species.-
Journal of Medical Internet Research
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Comparative Evaluation of a Medical Large Language Model in Answering Real-World Radiation Oncology Questions: Multicenter Observational Study
Background: Large language models (LLMs) hold promise for supporting clinical tasks, particularly in data-driven and technical disciplines such as radiation oncology. While prior evaluation studies have focused on examination-style settings for evaluating LLMs, their performance in real-life clinical scenarios remains unclear. In the future, LLMs might be used as general AI assistants to answer questions arising in clinical practice. It is unclear how well a modern LLM, locally executed within t
Comparative Evaluation of a Medical Large Language Model in Answering Real-World Radiation Oncology Questions: Multicenter Observational Study
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Journal of Medical Internet Research
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Large Language Models’ Clinical Decision-Making on When to Perform a Kidney Biopsy: Comparative Study
Background: Artificial intelligence (AI) and Large Language models (LLMs) are increasing in sophistication and are being integrated into many disciplines. The potential for LLMs to augment clinical decisions is an evolving area of research. Objective: This study compared the responses of over 1000 kidney specialist physicians (nephrologists) to outputs of commonly used LLMs using a questionnaire determining when a kidney biopsy should be performed. Methods: This research group completed a large
Large Language Models’ Clinical Decision-Making on When to Perform a Kidney Biopsy: Comparative Study
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Nature Medicine
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Clinical implementation of an AI-based prediction model for decision support for patients undergoing colorectal cancer surgery
Nature Medicine, Published online: 18 September 2025; doi:10.1038/s41591-025-03942-xA model developed with data from 19,403 patients with colorectal cancer for prediction of 1-year mortality is used as a decision support tool in a prospective cohort, showing promising results in reducing postoperative complications.
Clinical implementation of an AI-based prediction model for decision support for patients undergoing colorectal cancer surgery
Nature Medicine, Published online: 18 September 2025; doi:10.1038/s41591-025-03942-x
A model developed with data from 19,403 patients with colorectal cancer for prediction of 1-year mortality is used as a decision support tool in a prospective cohort, showing promising results in reducing postoperative complications.-
Journal of Medical Internet Research
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New Doc on the Block: Scoping Review of AI Systems Delivering Motivational Interviewing for Health Behavior Change
Background: Artificial intelligence (AI) is increasingly used in digital health, particularly through large language models (LLMs), to support patient engagement and behavior change. One novel application is the delivery of motivational interviewing (MI), an evidence-based, patient-centered counseling technique designed to enhance motivation and resolve ambivalence around health behaviors. AI tools, including chatbots, mobile apps, and web-based agents, are being developed to simulate MI techniq
New Doc on the Block: Scoping Review of AI Systems Delivering Motivational Interviewing for Health Behavior Change
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Nature - Issue - nature.com science feeds
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Fluctuating DNA methylation tracks cancer evolution at clinical scale
Nature, Published online: 10 September 2025; doi:10.1038/s41586-025-09374-4Cancer evolutionary dynamics are quantitatively inferred using a method, EVOFLUx, applied to fluctuating DNA methylation.
Fluctuating DNA methylation tracks cancer evolution at clinical scale
Nature, Published online: 10 September 2025; doi:10.1038/s41586-025-09374-4
Cancer evolutionary dynamics are quantitatively inferred using a method, EVOFLUx, applied to fluctuating DNA methylation.-
Omics In Lung
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GASPS: A Multi-Omics Framework for Defining Genomic Aberration-Driven Signatures and Predicting Patient Outcomes in Lung Cancer
bioRxiv [Preprint]. 2025 Aug 25:2025.08.21.671519. doi: 10.1101/2025.08.21.671519.ABSTRACTLung cancer is the most common cause of cancer-related death worldwide. Recent advancements in targeted therapies and immunotherapies have achieved remarkable success. However, patient responses to treatments with lung cancer vary substantially. The mutation status of driver genes can direct personalized treatment, but their prognostic value and treatment efficacy are limited. In this study, we developed a
GASPS: A Multi-Omics Framework for Defining Genomic Aberration-Driven Signatures and Predicting Patient Outcomes in Lung Cancer
bioRxiv [Preprint]. 2025 Aug 25:2025.08.21.671519. doi: 10.1101/2025.08.21.671519.
ABSTRACT
Lung cancer is the most common cause of cancer-related death worldwide. Recent advancements in targeted therapies and immunotherapies have achieved remarkable success. However, patient responses to treatments with lung cancer vary substantially. The mutation status of driver genes can direct personalized treatment, but their prognostic value and treatment efficacy are limited. In this study, we developed a statistical framework named Genomic Aberration-Derived Signature for Patient Stratification (GASPS) to characterize the transcriptomic deregulation of driver genomic aberrations and stratify patients. By applying GASPS to The Cancer Genome Atlas Lung Adenocarcinoma (TCGA-LUAD) data, we developed gene signatures for 38 driver genomic aberrations, including gene mutations, amplifications, and deletions. These signatures were applied to independent lung cancer transcriptomic datasets containing a total of 2,226 patient samples. Our results indicated that these driver gene signatures are much more prognostic than their corresponding genomic mutations. Interestingly, the two EGFR-related signatures characterizing EGFR mutation and amplification, respectively, exhibited contrasting associations with prognosis, treatment response, and immune infiltration in the tumor microenvironment. Moreover, the STK11 mutation signature, rather than the mutation status, was found to be predictive of the response and long-term benefit of patients treated with immune checkpoint blockade therapy in lung cancer. This framework is readily applicable to most cancer types using existing data to improve prognostic risk assessment and treatment efficacy by guiding personalized therapies.
PMID:40909579 | PMC:PMC12407784 | DOI:10.1101/2025.08.21.671519
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(Multiomics OR Omics) AND (Lung OR gastric OR Hepatocellular)
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GASPS: A Multi-Omics Framework for Defining Genomic Aberration-Driven Signatures and Predicting Patient Outcomes in Lung Cancer
bioRxiv [Preprint]. 2025 Aug 25:2025.08.21.671519. doi: 10.1101/2025.08.21.671519.ABSTRACTLung cancer is the most common cause of cancer-related death worldwide. Recent advancements in targeted therapies and immunotherapies have achieved remarkable success. However, patient responses to treatments with lung cancer vary substantially. The mutation status of driver genes can direct personalized treatment, but their prognostic value and treatment efficacy are limited. In this study, we developed a
GASPS: A Multi-Omics Framework for Defining Genomic Aberration-Driven Signatures and Predicting Patient Outcomes in Lung Cancer
bioRxiv [Preprint]. 2025 Aug 25:2025.08.21.671519. doi: 10.1101/2025.08.21.671519.
ABSTRACT
Lung cancer is the most common cause of cancer-related death worldwide. Recent advancements in targeted therapies and immunotherapies have achieved remarkable success. However, patient responses to treatments with lung cancer vary substantially. The mutation status of driver genes can direct personalized treatment, but their prognostic value and treatment efficacy are limited. In this study, we developed a statistical framework named Genomic Aberration-Derived Signature for Patient Stratification (GASPS) to characterize the transcriptomic deregulation of driver genomic aberrations and stratify patients. By applying GASPS to The Cancer Genome Atlas Lung Adenocarcinoma (TCGA-LUAD) data, we developed gene signatures for 38 driver genomic aberrations, including gene mutations, amplifications, and deletions. These signatures were applied to independent lung cancer transcriptomic datasets containing a total of 2,226 patient samples. Our results indicated that these driver gene signatures are much more prognostic than their corresponding genomic mutations. Interestingly, the two EGFR-related signatures characterizing EGFR mutation and amplification, respectively, exhibited contrasting associations with prognosis, treatment response, and immune infiltration in the tumor microenvironment. Moreover, the STK11 mutation signature, rather than the mutation status, was found to be predictive of the response and long-term benefit of patients treated with immune checkpoint blockade therapy in lung cancer. This framework is readily applicable to most cancer types using existing data to improve prognostic risk assessment and treatment efficacy by guiding personalized therapies.
PMID:40909579 | PMC:PMC12407784 | DOI:10.1101/2025.08.21.671519
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Cell
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Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment
In lieu of traditional genetic variant testing approaches, an approach using scalable variant classification in primary human T cells with a clinically relevant readout can inform rapid diagnosis and treatment of inborn errors of immunity.
Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment
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npj Digital Medicine
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Deep hierarchical subtyping of multi-organ systemic sclerosis trajectories - a EUSTAR study
npj Digital Medicine, Published online: 01 September 2025; doi:10.1038/s41746-025-01962-yDeep hierarchical subtyping of multi-organ systemic sclerosis trajectories - a EUSTAR study
Deep hierarchical subtyping of multi-organ systemic sclerosis trajectories - a EUSTAR study
npj Digital Medicine, Published online: 01 September 2025; doi:10.1038/s41746-025-01962-y
Deep hierarchical subtyping of multi-organ systemic sclerosis trajectories - a EUSTAR study