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Research papers on Personalized medicine and genomics

Recent and highly-cited academic work on personalized medicine and genomics, gathered from Semantic Scholar, CrossRef and OpenAlex.

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  1. Precision Medicine, AI, and the Future of Personalized Health Care

    Kevin B. Johnson, Wei‐Qi Wei, Dilhan Weeraratne, et al. · 2020 · Clinical and Translational Science · 1,753 citations

    The convergence of artificial intelligence (AI) and precision medicine promises to revolutionize health care. Precision medicine methods identify phenotypes of patients with less-common responses to treatment or unique healthcare needs. AI leverages sophisticated computation and inference to generate insights, enables the system to reason and learn, and empowers clinician decision making through augmented intelligence. Recent literature suggests that translational research exploring this convergence will help solve the most difficult challenges facing precision medicine, especially those in which nongenomic and genomic determinants, combined with information from patient symptoms, clinical h

  2. Personalized <i>In Vitro</i> and <i>In Vivo</i> Cancer Models to Guide Precision Medicine

    Chantal Pauli, Benjamin D. Hopkins, Davide Prandi, et al. · 2017 · Cancer Discovery · 958 citations

    Abstract Precision medicine is an approach that takes into account the influence of individuals' genes, environment, and lifestyle exposures to tailor interventions. Here, we describe the development of a robust precision cancer care platform that integrates whole-exome sequencing with a living biobank that enables high-throughput drug screens on patient-derived tumor organoids. To date, 56 tumor-derived organoid cultures and 19 patient-derived xenograft (PDX) models have been established from the 769 patients enrolled in an Institutional Review Board–approved clinical trial. Because genomics alone was insufficient to identify therapeutic options for the majority of patients with advanced di

  3. Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease

    Oriana Strianese, Francesca Rizzo, Michele Ciccarelli, et al. · 2020 · Genes · 235 citations

    Life expectancy has gradually grown over the last century. This has deeply affected healthcare costs, since the growth of an aging population is correlated to the increasing burden of chronic diseases. This represents the interesting challenge of how to manage patients with chronic diseases in order to improve health care budgets. Effective primary prevention could represent a promising route. To this end, precision, together with personalized medicine, are useful instruments in order to investigate pathological processes before the appearance of clinical symptoms and to guide physicians to choose a targeted therapy to manage the patient. Cardiovascular and neurodegenerative diseases represe

  4. From “Personalized” to “Precision” Medicine: The Ethical and Social Implications of Rhetorical Reform in Genomic Medicine

    Eric T. Juengst, Michelle L. McGowan, Jennifer R. Fishman, et al. · 2016 · The Hastings Center Report · 211 citations

    Since the late 1980s, the human genetics and genomics research community has been promising to usher in a "new paradigm for health care"-one that uses molecular profiling to identify human genetic variants implicated in multifactorial health risks. After the completion of the Human Genome Project in 2003, a wide range of stakeholders became committed to this "paradigm shift," creating a confluence of investment, advocacy, and enthusiasm that bears all the marks of a "scientific/intellectual social movement" within biomedicine. Proponents of this movement usually offer four ways in which their approach to medical diagnosis and health care improves upon current practices, arguing that it is mo

  5. Genomic Medicine, Precision Medicine, Personalized Medicine: What’s in a Name?

    D M Roden, Rachel F. Tyndale · 2013 · Clinical Pharmacology & Therapeutics · 74 citations

    This issue of Clinical Pharmacology & Therapeutics is devoted to genomic medicine, and a reader may reasonably ask what we mean when we use those words. In the initial issue of the journal Genomics in 1987, McKusick and Ruddle pointed out that the descriptor "genome" had been coined in 1920 as a hybrid of "gene" and "chromosome," and that their new journal would focus on the "newly-developing discipline of mapping/sequencing (including analysis of the information)." A key milestone in the field was the generation of the first draft of a human genome in 2000, but this success really represents only one of many milestones in the journey from Mendel to MiSeq.

  6. BMC3PM: bioinformatics multidrug combination protocol for personalized precision medicine and its application in cancer treatment

    Majid Mokhtari, Samane Khoshbakht, Mohammad Esmaeil Akbari, et al. · 2023 · BMC Medical Genomics · 7 citations

    Abstract Background In recent years, drug screening has been one of the most significant challenges in the field of personalized medicine, particularly in cancer treatment. However, several new platforms have been introduced to address this issue, providing reliable solutions for personalized drug validation and safety testing. In this study, we developed a personalized drug combination protocol as the primary input to such platforms. Methods To achieve this, we utilized data from whole-genome expression profiles of 6173 breast cancer patients, 312 healthy individuals, and 691 drugs. Our approach involved developi

  7. Advances in Personalized Medicine: Integrating Genomics and Precision Therapeutics

    Xiaoyu Qian, Jia Liao, Yu Fang · 2024 · Medicine Insights · 1 citations

    Personalized medicine represents a transformative approach to healthcare by tailoring medical treatments to individual patients based on their genetic, environmental, and lifestyle factors. This review explores the integration of genomics and precision therapeutics in personalized medicine, highlighting technological advances, applications, challenges, and future directions. Key findings include the significant impact of high-throughput sequencing, bioinformatics, artificial intelligence, and targeted therapies in improving patient outcomes. Despite existing challenges, the future of personalized medicine looks promising, with emerging technologies paving the way for more effective and indiv

  8. Good Intentions Gone Bad

    Nosheen Reza, Jessica L. Chowns, Amy Marzolf, et al. · 2019 · Circulation: Genomic and Precision Medicine

  9. Construction of personalized genomics model and clinical application in precision medicine

    Haoyu Li · 2024 · Applied Mathematics and Nonlinear Sciences

    Abstract Sequencing technology continues to evolve, and pharmacogenomics is increasingly pivotal in the pursuit of personalized medicine. This study delineates the personalized genomics model into two core modules for framework construction: data preprocessing and prediction. Within the data preprocessing module, a denoising submodule and a genomic feature distribution alignment module are dedicated to processing the genomic features associated with diseases and assimilating them into the spatial feature distribution of the model. The prediction module employs a fully connected neural network alongside a graph convolutional neural network to forecast drug dosages based on t

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