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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-w

MetaGraph enables scalable indexing of large sets of DNA, RNA or protein sequences using annotated de Bruijn graphs.
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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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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 CVD prevention remain uncertain. Recent studies have examined LLM use in various health care applications, but their effectiveness for providing nutrition information remains understudied. Although retrieval-augmented generation (RAG) frameworks have been shown to enhance LLM consistency and accuracy, their use in delivering nutrition information for CVD prevention requires further evaluation. Objective: To evaluate the effectiveness of off-the-shelf and RAG-enhanced LLMs in delivering guideline-adherent nutrition information for CVD prevention, we assessed 3 off-the-shelf models (ChatGPT-4o, Perplexity, and Llama 3-70B) and a Llama 3-70B+RAG model. Methods: We curated 30 nutrition questions that comprehensively addressed CVD prevention. These were approved by a registered dietitian providing preventive cardiology services at an academic medical center and were posed 3 times to each model. We developed a 15,074-word knowledge bank incorporating the American Heart Association’s 2021 dietary guidelines and related website content to enhance Meta’s Llama 3-70B model using RAG. The model received this and a few-shot prompt as context, included citations in a Context Source section, and used vector similarity to align responses with guideline content, with the temperature parameter set to 0.5 to enhance consistency. Model responses were evaluated by 3 expert reviewers against benchmark CV guidelines for appropriateness, reliability, readability, harm, and guideline adherence. Mean scores were compared using ANOVA, with statistical significance set at P<.05. interrater agreement was measured using the cohen coefficient and readability estimated flesch-kincaid score. results: llama model scored higher than perplexity gpt-4o models on reliability appropriateness guideline adherence showed no harm.>70%; P<.001 indicated high reviewer agreement. conclusions: the llama model outperformed off-the-shelf models across all measures with no evidence of harm although responses were less readable due to technical language. scored lower on and produced some harmful responses. these findings highlight limitations demonstrate that rag system integration can enhance llm performance in delivering evidence-based dietary information.>
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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 Innovation—with intersectoral stakeholders from academia, government (local, state, and federal), healthcare, and private industry. The convening included keynote presentations and roundtables regarding the depiction of social determinants of health (SDOH) in data; effects of artificial intelligence (AI) on health data equity; and community-based models for data, providing a framework for cross-cutting discussions. Through a narrative synthesis, themes were identified and synthesized from systematically gathered information from presentations and roundtables. This process led to a set of actionable, cross-cutting recommendations to guide inclusive and impactful data practices for policymakers, public health professionals, and health innovators across diverse contexts: (1) Enable big data and interoperability connecting SDOH and health outcomes; (2) Include diverse, non-technical voices in AI and health discussions; (3) Fund research on data equity and AI in health sciences; (4) Modernize Health Insurance Portability and Accountability Act (HIPAA) with new guidelines for AI and big data; and (5) Research and conceptual frameworks are needed to elucidate interconnections between data equity and health equity.
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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.
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