Artykuły w czasopismach: „Genomics”

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Tang, Lin. "Genomics beyond complete genomes". Nature Methods 19, nr 1 (styczeń 2022): 29. http://dx.doi.org/10.1038/s41592-021-01374-2.

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Hedges, S. B. "GENOMICS: Vertebrate Genomes Compared". Science 297, nr 5585 (23.08.2002): 1283b—1285. http://dx.doi.org/10.1126/science.1076231.

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Keller, Evelyn Fox. "Genes, Genomes, and Genomics". Biological Theory 6, nr 2 (czerwiec 2011): 132–40. http://dx.doi.org/10.1007/s13752-012-0014-x.

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Karam, Jose A., Shahrokh F. Shariat, Jer-Tsong Hsieh i Margaret A. Knowles. "Genomics: a preview of genomic medicine". BJU International 102, nr 9b (listopad 2008): 1221–27. http://dx.doi.org/10.1111/j.1464-410x.2008.07963.x.

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Lazaridis, Konstantinos N., i Gloria M. Petersen. "Genomics, genetic epidemiology, and genomic medicine". Clinical Gastroenterology and Hepatology 3, nr 4 (kwiecień 2005): 320–28. http://dx.doi.org/10.1016/s1542-3565(05)00085-6.

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Hollander, Rachelle D. "Social genomics: Genomic inventions in society". Science and Engineering Ethics 8, nr 4 (grudzień 2002): 485–96. http://dx.doi.org/10.1007/s11948-002-0002-9.

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Whitley, Kiara V., Josie A. Tueller i K. Scott Weber. "Genomics Education in the Era of Personal Genomics: Academic, Professional, and Public Considerations". International Journal of Molecular Sciences 21, nr 3 (24.01.2020): 768. http://dx.doi.org/10.3390/ijms21030768.

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Since the completion of the Human Genome Project in 2003, genomic sequencing has become a prominent tool used by diverse disciplines in modern science. In the past 20 years, the cost of genomic sequencing has decreased exponentially, making it affordable and accessible. Bioinformatic and biological studies have produced significant scientific breakthroughs using the wealth of genomic information now available. Alongside the scientific benefit of genomics, companies offer direct-to-consumer genetic testing which provide health, trait, and ancestry information to the public. A key area that must be addressed is education about what conclusions can be made from this genomic information and integrating genomic education with foundational genetic principles already taught in academic settings. The promise of personal genomics providing disease treatment is exciting, but many challenges remain to validate genomic predictions and diagnostic correlations. Ethical and societal concerns must also be addressed regarding how personal genomic information is used. This genomics revolution provides a powerful opportunity to educate students, clinicians, and the public on scientific and ethical issues in a personal way to increase learning. In this review, we discuss the influence of personal genomics in society and focus on the importance and benefits of genomics education in the classroom, clinics, and the public and explore the potential consequences of personal genomic education.

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Gurwitz, David, i Yael Bregman-Eschet. "Personal genomics services: whose genomes?" European Journal of Human Genetics 17, nr 7 (4.03.2009): 883–89. http://dx.doi.org/10.1038/ejhg.2008.254.

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Endy, D. "GENOMICS: Reconstruction of the Genomes". Science 319, nr 5867 (29.02.2008): 1196–97. http://dx.doi.org/10.1126/science.1155749.

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DiRita, V. J. "GENOMICS: Genomics Happens". Science 289, nr 5484 (1.09.2000): 1488–89. http://dx.doi.org/10.1126/science.289.5484.1488.

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Goldenberg, Aaron J., Roselle Ponsaran, Amy Gaviglio, Dalton Simancek i Beth A. Tarini. "Genomics and Newborn Screening: Perspectives of Public Health Programs". International Journal of Neonatal Screening 8, nr 1 (28.01.2022): 11. http://dx.doi.org/10.3390/ijns8010011.

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This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014–March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negative psychosocial impact of genomic information. Attempts to address the challenges of integrating genomics must focus on preserving the child welfare goals of NBS programs. Health departments will need to explore how genomics could be used to enhance programs while maintaining universal access to screening.

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Lee, Hyunhwa, Jessica Gill, Taura Barr, Sijung Yun i Hyungsuk Kim. "Primer in Genetics and Genomics, Article 2—Advancing Nursing Research With Genomic Approaches". Biological Research For Nursing 19, nr 2 (30.01.2017): 229–39. http://dx.doi.org/10.1177/1099800416689822.

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Purpose: Nurses investigate reasons for variable patient symptoms and responses to treatments to inform how best to improve outcomes. Genomics has the potential to guide nursing research exploring contributions to individual variability. This article is meant to serve as an introduction to the novel methods available through genomics for addressing this critical issue and includes a review of methodological considerations for selected genomic approaches. Approach: This review presents essential concepts in genetics and genomics that will allow readers to identify upcoming trends in genomics nursing research and improve research practice. It introduces general principles of genomic research and provides an overview of the research process. It also highlights selected nursing studies that serve as clinical examples of the use of genomic technologies. Finally, the authors provide suggestions about how to apply genomic technology in nursing research along with directions for future research. Conclusions: Using genomic approaches in nursing research can advance the understanding of the complex pathophysiology of disease susceptibility and different patient responses to interventions. Nurses should be incorporating genomics into education, clinical practice, and research as the influence of genomics in health-care research and practice continues to grow. Nurses are also well placed to translate genomic discoveries into improved methods for patient assessment and intervention.

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Pennisi, E. "PLANT GENOMICS:A Bonanza for Plant Genomics". Science 282, nr 5389 (23.10.1998): 652–54. http://dx.doi.org/10.1126/science.282.5389.652.

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JORGENSEN, P., B. J. BREITKREUTZ, K. BREITKREUTZ, C. STARK, G. LIU, M. COOK, J. SHAROM i in. "Harvesting the Genome's Bounty: Integrative Genomics". Cold Spring Harbor Symposia on Quantitative Biology 68 (1.01.2003): 431–44. http://dx.doi.org/10.1101/sqb.2003.68.431.

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Borkar, Dipali B., i Vishal L. Bagde. "Approches of Insect Genomics". International Journal of Scientific Research 2, nr 10 (1.06.2012): 1–3. http://dx.doi.org/10.15373/22778179/oct2013/15.

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Copeland, N. G. "GENOMICS: Enhanced: Mmu 16--Comparative Genomic Highlights". Science 296, nr 5573 (31.05.2002): 1617–18. http://dx.doi.org/10.1126/science.1073127.

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Reardon, Jenny. "Genomics' problem of communication". Journal of Science Communication 10, nr 03 (21.09.2011): C06. http://dx.doi.org/10.22323/2.10030306.

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Since opening their doors in late 2006, personal genomics (PG) companies have faced skepticism and criticism from influential academic and government circles. While this has posed a clear problem of communication for these companies — one of effective promotion — I argue that the communication problem these companies face runs much deeper. It is a problem that lies at the heart of any genomics: the very understanding of communication and information around which genomics is built. While the value of genomic information for persons has been widely questioned, questions about the very notion of information that undergirds the production of genomic information rarely, if ever, has been broached. I suggest that making significant inroads into the vexing debates about PG would be greatly aided by addressing these more fundamental questions about the nature of information, and its genomic qualities.

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Song, Luting, i Wen Wangs. "Genomes and evolutionary genomics of animals". Current Zoology 59, nr 1 (1.02.2013): 87–98. http://dx.doi.org/10.1093/czoolo/59.1.87.

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Abstract Alongside recent advances and booming applications of DNA sequencing technologies, a great number of complete genome sequences for animal species are available to researchers. Hundreds of animals have been involved in whole genome sequencing, and at least 87 non-human animal species’ complete or draft genome sequences have been published since 1998. Based on these technological advances and the subsequent accumulation of large quantity of genomic data, evolutionary genomics has become one of the most rapidly advancing disciplines in biology. Scientists now can perform a number of comparative and evolutionary genomic studies for animals, to identify conserved genes or other functional elements among species, genomic elements that confer animals their own specific characteristics and new phenotypes for adaptation. This review deals with the current ge-nomic and evolutionary research on non-human animals, and displays a comprehensive landscape of genomes and the evolutionary genomics of non-human animals. It is very helpful to a better understanding of the biology and evolution of the myriad forms within the animal kingdom.

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Hien, Le Thi Thu, Nguyen Tuong Van, Kim Thi Phuong Oanh, Nguyen Dang Ton, Huynh Thi Thu Hue, Nguyen Thuy Duong, Pham Le Bich Hang i Nguyen Hai Ha. "Genomics and big data: Research, development and applications". Vietnam Journal of Biotechnology 19, nr 3 (13.10.2021): 393–410. http://dx.doi.org/10.15625/1811-4989/16158.

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Recent years, genomics and big data analytics have been widely applied and have significant impacts in various important areas of social life worldwide. The development of the next-generation sequencing (NGS) technologies, such as whole-genome sequencing (WGS), whole-exome sequencing (WES), transcriptome, and/or targeted sequencing, has enabled quickly generating the genomes of interested living organisms. Around the world many nations have invested in and promoted the development of genomics and big data analytics. A number of well-established projects on sequencing of human, animal, plant, and microorganism genomes to generate vast amounts of genomic data have been conducted independently or as collaborative efforts by national or international research networks of scientists specializing in different technical fields of genomics, bioinformatics, computational and statistical biology, automation, artificial intelligence, etc. Complicated and large genomic datasets have been effectively established, storage, managed, and used. Vietnam supports this new field of study through setting up governmental authorized institutions and conducting genomic research projects of human and other endemic organisms. In this paper, the research, development, and applications of genomic big data are reviewed with focusing on: (i) Available sequencing technologies for generating genomic datasets; (ii) Genomics and big data initiatives worldwide; (iii) Genomics and big data analytics in selected countries and Vietnam; (iv) Genomic data applications in key areas including medicine for human health care, agriculture - forestry, food safety, and environment.

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Turbitt, Erin, i Barbara B. Biesecker. "A primer in genomics for social and behavioral investigators". Translational Behavioral Medicine 10, nr 2 (22.02.2019): 451–56. http://dx.doi.org/10.1093/tbm/ibz018.

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Abstract Genomics is being increasingly utilized in medical research and health care. Countless opportunities exist for social and behavioral scientists to answer novel and important research questions. Evidence that will be produced from such enquiries can help ensure appropriate use of genomic information and realize the potential of genomics to improve patient care and medical outcomes. Here, we provide an accessible overview of different types of genetic and genomic tests and the resulting information produced. There are important nuances that distinguish genetic from genomic tests and different information that each yield. We outline key examples where social and behavioral scientists have made an impact in this field, and opportunities for future research. The intention of this primer is to introduce or clarify genomics concepts to social and behavioral scientists, summarize prior research and outline future research directions. The time is ripe for social and behavioral scientists to engage in genomics and make important contributions to improve clinical and community translation of genomic discoveries.

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Lopez, Jose V., Bishoy Kamel, Mónica Medina, Timothy Collins i Iliana B. Baums. "Multiple Facets of Marine Invertebrate Conservation Genomics". Annual Review of Animal Biosciences 7, nr 1 (15.02.2019): 473–97. http://dx.doi.org/10.1146/annurev-animal-020518-115034.

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Conservation genomics aims to preserve the viability of populations and the biodiversity of living organisms. Invertebrate organisms represent 95% of animal biodiversity; however, few genomic resources currently exist for the group. The subset of marine invertebrates includes the most ancient metazoan lineages and possesses codes for unique gene products and possible keys to adaptation. The benefits of supporting invertebrate conservation genomics research (e.g., likely discovery of novel genes, protein regulatory mechanisms, genomic innovations, and transposable elements) outweigh the various hurdles (rare, small, or polymorphic starting materials). Here we review best conservation genomics practices in the laboratory and in silico when applied to marine invertebrates and also showcase unique features in several case studies of acroporid corals, crown-of-thorns starfish, apple snails, and abalone. Marine conservation genomics should also address how diversity can lead to unique marine innovations, the impact of deleterious variation, and how genomic monitoring and profiling could positively affect broader conservation goals (e.g., value of baseline data for in situ/ex situ genomic stocks).

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Bevan, Michael. "Plant genomics and functional genomics". Biochemical Society Transactions 28, nr 5 (1.10.2000): A131. http://dx.doi.org/10.1042/bst028a131.

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Khan, Nida Tabassum, Namra Jameel i Maham Jamil Khan. "Functional Genomics–Linking Genotype with Phenotype on Genome-wide Scale". INTERNATIONAL JOURNAL OF APPLIED PHARMACEUTICAL SCIENCES AND RESEARCH 4, nr 01 (1.01.2019): 4–12. http://dx.doi.org/10.21477/ijapsr.4.1.2.

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Functional genomics manipulates genomic data to study genes and its expression on a genome wide scale involving high-throughput methods. The keyobjective of Functional genomics is to exploit the data acquired from transcriptomic and genomic studies to explain the functions and interfaces of a genome and its corresponding phenotype.

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L Hazell, Stuart. "Genomics and drug discovery". Microbiology Australia 23, nr 5 (2002): 17. http://dx.doi.org/10.1071/ma02517.

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Genomics represents a new tool in drug discovery. Microbial genomics have been at the forefront of a new era of whole cell molecular biology because genomic data provides a quantum leap in available genetic data. But while the tool is valuable and important, it is not the complete answer.

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Wickens, H. J., S. Simpson, A. Pope i J. Allen. "Pharmacy and Genomic Medicine: A UK-wide survey of pharmacy staff assessing their prior education, confidence and educational needs". International Journal of Pharmacy Practice 31, Supplement_2 (30.11.2023): ii53. http://dx.doi.org/10.1093/ijpp/riad074.066.

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Abstract Introduction Pharmacy teams are key in helping patients to get the most from genomic medicine.1,2 However, genomics has only recently been included in undergraduate curricula, and it has been suggested that all healthcare professionals could benefit from education in pharmacogenomics2. We surveyed pharmacy staff to gather information on previous education, current practice and future educational needs in genomics and pharmacogenomics. Aim This survey aimed to establish existing levels of education and confidence in genomics and pharmacogenomics in pharmacy staff working in any role, in any sector, across the UK, and to investigate respondents’ preferences in delivery of genomic education. Methods The survey was based on a 2021 survey of genomic knowledge among medical staff by Health Education England (HEE)3, and amended to reflect pharmacy roles and practice following discussion with pharmacy leads from the 7 NHS Genomic Medicine Service Alliances in England, and from Scotland, Wales and Northern Ireland. SmartSurvey software was used to host the survey, with data held securely. The survey was open between 1st March and 16th May 2022, and was publicised via pharmacy groups including the Royal Pharmaceutical Society, National Pharmacy Association, Local Pharmaceutical Committees, chief pharmacists networks in primary and secondary care, and social media. This work was assessed using the NHS Health Research Authority Research screening tool and judged as ‘not research’; therefore ethical approval was not required. Results 1,552 responses were received from pharmacists, pharmacy technicians, dispensers and other pharmacy staff across the UK; 68% of responses were from England, 13% from Scotland, 10% from Northern Ireland and 9% from Wales. The majority of responses (69%) were from Pharmacists, with 24% from Pharmacy Technicians and 4% from Pharmacy support workers. Only 13% of respondents had received any formal training in genomics. Most respondents felt unprepared to use genomic testing in their practice; just 8% of pharmacists (including trainees), and 1% of pharmacy technicians (including trainees) felt prepared. However, 65% of respondents thought that genomics would change their practice within the next 5 years, and over 70% of pharmacists, and 56% of pharmacy technicians, could envisage ordering, advising on, or counselling patients on genomic testing in the future after appropriate training. 29% of respondents (mainly pharmacy managers) did not currently see patients and therefore might not train personally in genomics. Discussion/Conclusion This work suggests that pharmacy teams are likely to require educational support to embrace the opportunities of genomic medicine. High survey engagement suggested that respondents were keen to make their voices heard. Pharmacists appeared more confident in their ability to advise patients on genomics than Technicians, however both groups seemed keen to receive training. One limitation is that respondents were likely interested in genomics; those with no interest may not have completed the survey. Additionally, pharmacy managers who do not see patients might not train personally in genomics, but may influence strategy for pharmacy genomics service development and delivery. National bodies should capitalise on enthusiasm across the sector to help drive pharmacy genomics services forward through education and training. References 1. Royal College of Physicians and British Pharmacological Society. Personalised prescribing: using pharmacogenomics to improve patient outcomes. Report of a working party. London: RCP and BPS, 2022. https://www.rcp.ac.uk/projects/outputs/personalised-prescribing-using-pharmacogenomics-improve-patient-outcomes last accessed 1/6/23 2. Royal Pharmaceutical Society. Collaborative Position statement for Pharmacy professionals and Genomic Medicine. London: RPS, 2023 https://www.rpharms.com/development/pharmacogenomics/genomic-statement last accessed 1/6/23 3. Health Education England. Genomics in your practice: a health and social care survey. Birmingham, Health Education England, 2023 https://www.genomicseducation.hee.nhs.uk/documents/genomics-in-your-practice-a-health-and-social-care-survey/ last accessed 1/6/23

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Orsini, Luisa, Ellen Decaestecker, Luc De Meester, Michael E. Pfrender i John K. Colbourne. "Genomics in the ecological arena". Biology Letters 7, nr 1 (11.08.2010): 2–3. http://dx.doi.org/10.1098/rsbl.2010.0629.

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This meeting report presents the cutting-edge research that is developing around the waterflea Daphnia , an emerging model system in environmental genomics. Daphnia has been a model species in ecology, toxicology and evolution for many years and is supported by a large community of ecologists, evolutionary biologists and ecotoxicologists. Thanks to new advances in genomics and transciptomics and to the sustained efforts of the Daphnia Genomics Consortium (DGC), Daphnia is also rapidly developing as a model system in environmental genomics. Advances in this emerging field were presented at the DGC 2010, held for the first time in a European University. During the meeting, a plethora of elegant studies were presented on the mechanisms of responses to environmental challenges using recently developed genomic tools. The DGC 2010 is a concrete example of the new trends in ecology and evolution. The times are mature for the application of innovative genomic and transcriptomic tools for studies of environmental genomics in non-model organisms.

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Yue, Tianwei, Yuanxin Wang, Longxiang Zhang, Chunming Gu, Haoru Xue, Wenping Wang, Qi Lyu i Yujie Dun. "Deep Learning for Genomics: From Early Neural Nets to Modern Large Language Models". International Journal of Molecular Sciences 24, nr 21 (1.11.2023): 15858. http://dx.doi.org/10.3390/ijms242115858.

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The data explosion driven by advancements in genomic research, such as high-throughput sequencing techniques, is constantly challenging conventional methods used in genomics. In parallel with the urgent demand for robust algorithms, deep learning has succeeded in various fields such as vision, speech, and text processing. Yet genomics entails unique challenges to deep learning, since we expect a superhuman intelligence that explores beyond our knowledge to interpret the genome from deep learning. A powerful deep learning model should rely on the insightful utilization of task-specific knowledge. In this paper, we briefly discuss the strengths of different deep learning models from a genomic perspective so as to fit each particular task with proper deep learning-based architecture, and we remark on practical considerations of developing deep learning architectures for genomics. We also provide a concise review of deep learning applications in various aspects of genomic research and point out current challenges and potential research directions for future genomics applications. We believe the collaborative use of ever-growing diverse data and the fast iteration of deep learning models will continue to contribute to the future of genomics.

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Maradiegue, Ann H., Quannetta T. Edwards i Diane Seibert. "5-Years Later – Have Faculty Integrated Medical Genetics into Nurse Practitioner Curriculum?" International Journal of Nursing Education Scholarship 10, nr 1 (31.10.2013): 245–54. http://dx.doi.org/10.1515/ijnes-2012-0007.

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AbstractMany genetic/genomic educational opportunities are available to assist nursing faculty in their knowledge and understanding of genetic/genomics. This study was conducted to assess advance practice nursing faculty members’ current knowledge of medical genetics/genomics, their integration of genetics/genomics content into advance practice nursing curricula, any prior formal training/education in genetics/genomics, and their comfort level in teaching genetics/genomic content. A secondary aim was to conduct a comparative analysis of the 2010 data to a previous study conducted in 2005, to determine changes that have taken place during that time period. During a national nurse practitioner faculty conference, 85 nurse practitioner faculty voluntarily completed surveys. Approximately 70% of the 2010 faculty felt comfortable teaching basic genetic/genomic concepts compared to 50% in 2005. However, there continue to be education gaps in the genetic/genomic content taught to advance practice nursing students. If nurses are going to be a crucial member of the health-care team, they must achieve the requisite competencies to deliver the increasingly complex care patients require.

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Osada, Jesús. "Nutrition Genomics". International Journal of Molecular Sciences 24, nr 7 (30.03.2023): 6490. http://dx.doi.org/10.3390/ijms24076490.

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This Special Issue is devoted to nutrition genomics, which is the characterization of the whole genome response to nutrients, in an effort to gather all the available pertinent information and to establish the foundation for a future encyclopedia of genomic responses driven by diets or nutrients [...]

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Seoighe, Cathal, Adrian P. Bracken, Patrick Buckley, Peter Doran, Robert Green, Sandra Healy, David Kavanagh i in. "The future of genomics in Ireland – focus on genomics for health". HRB Open Research 3 (4.12.2020): 89. http://dx.doi.org/10.12688/hrbopenres.13187.1.

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Genomics is revolutionizing biomedical research, medicine and healthcare globally in academic, public and industry sectors alike. Concrete examples around the world show that huge benefits for patients, society and economy can be accrued through effective and responsible genomic research and clinical applications. Unfortunately, Ireland has fallen behind and needs to act now in order to catch up. Here, we identify key issues that have resulted in Ireland lagging behind, describe how genomics can benefit Ireland and its people and outline the measures needed to make genomics work for Ireland and Irish patients. There is now an urgent need for a national genomics strategy that enables an effective, collaborative, responsible, well-regulated, and patient centred environment where genome research and clinical genomics can thrive. We present eight recommendations that could be the pillars of a national genomics health strategy.

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Taylor, Natalie, Stephanie Best, Melissa Martyn, Janet C. Long, Kathryn N. North, Jeffrey Braithwaite i Clara Gaff. "A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol". BMJ Open 9, nr 3 (marzec 2019): e024681. http://dx.doi.org/10.1136/bmjopen-2018-024681.

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IntroductionTranslating scientific advances in genomic medicine into evidence-based clinical practice is challenging. Studying the natural translation of genomics into ‘early-adopting’ health system sectors is essential. We will (a) examine 29 health systems (Australian and Melbourne Genomics Health Alliance flagships) integrating genomics into practice and (b) combine this learning to co-design and test an evidence-based generalisable toolkit for translating genomics into healthcare.Methods and analysisTwenty-nine flagships integrating genomics into clinical settings are studied as complex adaptive systems to understand emergent and self-organising behaviours among inter-related actors and processes. The Effectiveness–Implementation Hybrid approach is applied to gather information on the delivery and potential for real-world implementation. Stages ‘1’ and ‘2a’ (representing hybrid model 1) are the focus of this protocol. The Translation Science to Population Impact (TSci Impact) framework is used to study policy decisions and service provision, and the Theoretical Domains Framework (TDF) is used to understand individual level behavioural change; both frameworks are applied across stages 1 and 2a. Stage 1 synthesises interview data from 32 participants involved in developing the genomics clinical practice systems and approaches across five ‘demonstration-phase’ (early adopter) flagships. In stage 2a, stakeholders are providing quantitative and qualitative data on process mapping, clinical audits, uptake and sustainability (TSci Impact), and psychosocial and environmental determinants of change (TDF). Findings will be synthesised before codesigning an intervention toolkit to facilitate implementation of genomic testing. Study methods to simultaneously test the comparative effectiveness of genomic testing and the implementation toolkit (stage 2b), and the refined implementation toolkit while simply observing the genomics intervention (stage 3) are summarised.Ethics and disseminationEthical approval has been granted. The results will be disseminated in academic forums and used to refine interventions to translate genomics evidence into healthcare. Non-traditional academic dissemination methods (eg, change in guidelines or government policy) will also be employed.

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Sharoff, Leighsa. "A snapshot of nurses’ understanding, perceptions and comfort level of genomics". Journal of Nursing Education and Practice 11, nr 12 (27.07.2021): 1. http://dx.doi.org/10.5430/jnep.v11n12p1.

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Objective: The primary aim of this study explored holistic nurses’ self-perceived genomic knowledge, perceptions, attitude and comfort of genomics. A second aim compared results to previous findings of nurse educators and advanced degree practicing registered nurses’ genomic knowledge utilizing the same survey instruments.Methods: Design: Recruitment of participants, through the American Holistic Nurses Association (AHNA), was achieved via an anonymous Survey Monkey link of the Genetic and Genomic Literacy Assessment (GGLA) survey. The GGLA survey comprised three aspects: Self-Perceived Genomic Knowledge Survey; Perceptions and Attitudes about Genomics Integration into Nursing Practice Survey and the Comfort Level of Genomics Survey. Method: The GGLA survey link was made available via the AHNA newsletter.Results: Holistic nurses (n = 41) self-perceived genomic knowledge level demonstrated a knowledge base gap in their comprehension and ability to explain genomic concepts to their patients. Majority of holistic nurses were significantly not comfortable with their genomic knowledge (90% or greater). Comparison with nurse educators (n = 53) and advanced degree practicing registered nurses’ (n = 36) genomic knowledge provided additional insight.Conclusions: A significant majority of nurses are unprepared to adopt genomics into their practice whilst experiencing a lack comfort and confidence. The global success of nursing practice resides with its’ practitioners being fully informed and competent with all required competencies, especially if nursing is to remain prevalent within personalized healthcare.

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Pennisi, E. "GENOMICS: Charting a Genome's Hills and Valleys". Science 296, nr 5573 (31.05.2002): 1601–3. http://dx.doi.org/10.1126/science.296.5573.1601.

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DELWICHE, CHARLES F. "The Genomic Palimpsest: Genomics in Evolution and Ecology". BioScience 54, nr 11 (2004): 991. http://dx.doi.org/10.1641/0006-3568(2004)054[0991:tgpgie]2.0.co;2.

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Bofkin, L., i S. Whelan. "Comparative genomics: Functional needles in a genomic haystack". Heredity 92, nr 5 (26.04.2004): 363–64. http://dx.doi.org/10.1038/sj.hdy.6800429.

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Naruya, Saitou. "Evolutionary genomics: molecular evolution at the genomic scale". Trends in Genetics 18, nr 5 (maj 2002): 239–40. http://dx.doi.org/10.1016/s0168-9525(02)02675-6.

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Yuan, Yuxuan, Philipp E. Bayer, Jacqueline Batley i David Edwards. "Improvements in Genomic Technologies: Application to Crop Genomics". Trends in Biotechnology 35, nr 6 (czerwiec 2017): 547–58. http://dx.doi.org/10.1016/j.tibtech.2017.02.009.

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Ogunrin, Olubunmi, Funmilola Taiwo i Lucy Frith. "Genomic Literacy and Awareness of Ethical Guidance for Genomic Research in Sub-Saharan Africa: How Prepared Are Biomedical Researchers?" Journal of Empirical Research on Human Research Ethics 14, nr 1 (25.10.2018): 78–87. http://dx.doi.org/10.1177/1556264618805194.

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Achieving the objectives of rolling out genomic research programs in sub-Saharan Africa depends on how prepared indigenous biomedical researchers are for this type of research. We explored the level of preparedness of biomedical researchers in a sub-Saharan African country using in-depth interviews to obtain data on their understanding of genomics and genomic research and assess their awareness of the scope of the country’s code of health research ethics. Thirty biomedical researchers were interviewed. Only eight were familiar with concepts of genomics, a form of “genomic health literacy.” The majority were not aware of the country’s code of research ethics. This study showed that generally biomedical researchers were not genomic health literate, unaware of the code and its limitations as a source of ethical guidance for the conduct of genomic research. These findings underscore the need for educational training in genomics and creating awareness of ethical oversight for genomic research in sub-Saharan Africa.

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McBride, Colleen M., Kristi D. Graves, Kimberly A. Kaphingst, Caitlin G. Allen, Catharine Wang, Elva Arredondo i William M. P. Klein. "Behavioral and social scientists’ reflections on genomics: a systematic evaluation within the Society of Behavioral Medicine". Translational Behavioral Medicine 9, nr 6 (5.04.2019): 1012–19. http://dx.doi.org/10.1093/tbm/ibz044.

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ABSTRACT Clinical and public health translation of genomics could be facilitated by expertise from behavioral medicine, yet genomics has not been a significant focus of the Society of Behavioral Medicine (SBM). SBM convened a working group (WG) to lead a systematic exploration of members’ views on: (a) whether SBM should give a higher priority to genomic translation and (b) what efforts, if any, should be made to support this increased engagement. The WG used a stepped process over 2 years that began by gaining input from SBM leadership regarding key issues and suggestions for approach, engaging a cross section of membership to expand and record these discussions, followed by systematic qualitative analyses to inform priority action steps. Discussions with SBM leaders and members suggested that genomics was relevant to SBM, particularly for junior members. SBM members’ expertise in social and behavioral theory, and implementation study designs, were viewed as highly relevant to genomic translation. Participants expressed that behavioral and social scientists should be engaged in translational genomics work, giving special attention to health disparities. Proposed action steps are aligned with a “push–pull” framework of innovation dissemination. “Push” strategies aim to reach potential adopters and included linking members with genomics expertise to those wanting to become involved and raising awareness of evidence-based genomic applications ready for implementation. “Pull” strategies aim to expand demand and included developing partnerships with genomics societies and advocating for funding, study section modifications, and training programs.

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Zhao, Xiaomin, Xuying LI, Yi Liu, Kathleen Calzone, Juan Xu, Xueling Xiao i Honghong Wang. "Genetic and genomic nursing competency among nurses in tertiary general hospitals and cancer hospitals in mainland China: a nationwide survey". BMJ Open 12, nr 12 (grudzień 2022): e066296. http://dx.doi.org/10.1136/bmjopen-2022-066296.

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ObjectivesTo explore genetic/genomic nursing competency and associated factors among nurses from tertiary general and specialist cancer hospitals in mainland China and compare the competencies of nurses from the two types of hospitals.Design and settingA cross-sectional survey was conducted from November 2019 to January 2020, wherein 2118 nurses were recruited from 8 tertiary general hospitals and 4 cancer hospitals in mainland China. We distributed electronic questionnaires to collect data on nurses’ demographics, work-related variables and genomic nursing competency.Participants2118 nurses were recruited via a three-stage stratified cluster sampling method.ResultsMore than half (59.1%, 1252/2118) of the participants reported that their curriculum included genetics/genomics content. The mean nurses’ genomic knowledge score was 8.30/12 (95% CI=8.21 to 8.39). Only 5.4% had always collected a complete family history in the past 3 months. Compared with general hospital nurses, slightly more cancer hospital nurses (75.6% vs 70.6%, p=0.010) recognised the importance of genomics, while there was no significant difference in the knowledge scores (8.38 vs 8.21, p>0.05). Gender (β=0.06, p=0.005), years of clinical nursing (β=−0.07, p=0.002), initial level of nursing education (β=0.10, p<0.001), membership of the Chinese Nursing Association (β=0.06, p=0.004), whether their curriculum included genetics/genomics content (β=0.08, p=0.001) and attitude towards becoming more educated in genetics/genomics (β=0.25, p<0.001) were significantly associated with the nurses’ genomic knowledge score.ConclusionThe levels of genomic knowledge among mainland Chinese nurses in tertiary hospitals were moderate. The overall genomic competency of cancer hospital nurses was comparable to that of general hospital nurses. Further genomic training is needed for nurses in China to increase their genomic competency and accelerate the integration of genomics into nursing practice.

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Mboowa, Gerald, Savannah Mwesigwa, Eric Katagirya, Gaone Retshabile, Busisiwe C. Mlotshwa, Lesedi Williams, Adeodata Kekitiinwa i in. "The Collaborative African Genomics Network (CAfGEN): Applying Genomic technologies to probe host factors important to the progression of HIV and HIV-tuberculosis infection in sub-Saharan Africa". AAS Open Research 1 (18.04.2018): 3. http://dx.doi.org/10.12688/aasopenres.12832.1.

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Background: The Human Heredity and Health in Africa consortium (H3Africa) was conceived to facilitate the application of genomics technologies to improve health across Africa. Here, we describe how the Collaborative African Genomics Network (CAfGEN) of the H3Africa consortium is using genomics to probe host genetic factors important to the progression of HIV and HIV-tuberculosis (TB) coinfection in sub-Saharan Africa. Methods: CAfGEN is an H3Africa collaborative centre comprising expertise from the University of Botswana; Makerere University; Baylor College of Medicine Children’s Clinical Centers of Excellence (COEs) in Botswana, Uganda, and Swaziland; as well as Baylor College of Medicine, Texas. The COEs provide clinical expertise for community engagement, participant recruitment and sample collection while the three University settings facilitate processing and management of genomic samples and provide infrastructure and training opportunities to sustain genomics research. Results: The project has focused on utilizing whole-exome sequencing to identify genetic variants contributing to extreme HIV disease progression phenotypes in children, as well as RNA sequencing and integrated genomics to identify host genetic factors associated with TB disease progression among HIV-positive children. These cohorts, developed using the COEs’ electronic medical records, are exceptionally well-phenotyped and present an unprecedented opportunity to assess genetic factors in individuals whose HIV was acquired by a different route than their adult counterparts in the context of a unique clinical course and disease pathophysiology. Conclusions: Our approach offers the prospect of developing a critical mass of well-trained, highly-skilled, continent-based African genomic scientists. To ensure long term genomics research sustainability in Africa, CAfGEN contributes to a wide range of genomics capacity and infrastructure development on the continent, has laid a foundation for genomics graduate programs at its institutions, and continues to actively promote genomics research through innovative forms of community engagement brokered by partnerships with governments and academia to support genomics policy formulation.

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Mboowa, Gerald, Savannah Mwesigwa, Eric Katagirya, Gaone Retshabile, Busisiwe C. Mlotshwa, Lesedi Williams, Adeodata Kekitiinwa i in. "The Collaborative African Genomics Network (CAfGEN): Applying Genomic technologies to probe host factors important to the progression of HIV and HIV-tuberculosis infection in sub-Saharan Africa". AAS Open Research 1 (21.06.2018): 3. http://dx.doi.org/10.12688/aasopenres.12832.2.

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Background: Here, we describe how the Collaborative African Genomics Network (CAfGEN) of the Human Heredity and Health in Africa (H3Africa) consortium is using genomics to probe host genetic factors important to the progression of HIV and HIV-tuberculosis (TB) coinfection in sub-Saharan Africa. The H3Africa was conceived to facilitate the application of genomics technologies to improve health across Africa.. Methods: CAfGEN is an H3Africa collaborative centre comprising expertise from the University of Botswana; Makerere University; Baylor College of Medicine Children’s Clinical Centers of Excellence (COEs) in Botswana, Uganda, and Swaziland; as well as Baylor College of Medicine, Texas. The COEs provide clinical expertise for community engagement, participant recruitment and sample collection while the three University settings facilitate processing and management of genomic samples and provide infrastructure and training opportunities to sustain genomics research. Results: The project has focused on utilizing whole-exome sequencing to identify genetic variants contributing to extreme HIV disease progression phenotypes in children, as well as RNA sequencing and integrated genomics to identify host genetic factors associated with TB disease progression among HIV-positive children. These cohorts, developed using the COEs’ electronic medical records, are exceptionally well-phenotyped and present an unprecedented opportunity to assess genetic factors in individuals whose HIV was acquired by a different route than their adult counterparts in the context of a unique clinical course and disease pathophysiology. Conclusions: Our approach offers the prospect of developing a critical mass of well-trained, highly-skilled, continent-based African genomic scientists. To ensure long term genomics research sustainability in Africa, CAfGEN contributes to a wide range of genomics capacity and infrastructure development on the continent, has laid a foundation for genomics graduate programs at its institutions, and continues to actively promote genomics research through innovative forms of community engagement brokered by partnerships with governments and academia to support genomics policy formulation.

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Laudadio, Jennifer, Jeffrey L. McNeal, Scott D. Boyd, Long Phi Le, Christina Lockwood, Cindy B. McCloskey, Gaurav Sharma, Karl V. Voelkerding i Richard L. Haspel. "Design of a Genomics Curriculum: Competencies for Practicing Pathologists". Archives of Pathology & Laboratory Medicine 139, nr 7 (1.07.2015): 894–900. http://dx.doi.org/10.5858/arpa.2014-0253-cp.

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Context The field of genomics is rapidly impacting medical care across specialties. To help guide test utilization and interpretation, pathologists must be knowledgeable about genomic techniques and their clinical utility. The technology allowing timely generation of genomic data is relatively new to patient care and the clinical laboratory, and therefore, many currently practicing pathologists have been trained without any molecular or genomics exposure. Furthermore, the exposure that current and recent trainees receive in this field remains inconsistent. Objective To assess pathologists' learning needs in genomics and to develop a curriculum to address these educational needs. Design A working group formed by the College of American Pathologists developed an initial list of genomics competencies (knowledge and skills statements) that a practicing pathologist needs to be successful. Experts in genomics were then surveyed to rate the importance of each competency. These data were used to create a final list of prioritized competencies. A subset of the working group defined subtopics and tasks for each competency. Appropriate delivery methods for the educational material were also proposed. Results A final list of 32 genomics competency statements was developed. A prioritized curriculum was created with designated subtopics and tasks associated with each competency. Conclusions We present a genomics curriculum designed as a first step toward providing practicing pathologists with the competencies needed to practice successfully.

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Kessler, Christine. "Genomics and Precision Medicine: Implications for Critical Care". AACN Advanced Critical Care 29, nr 1 (15.03.2018): 28–35. http://dx.doi.org/10.4037/aacnacc2018521.

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A new paradigm for disease diagnosis and treatment is emerging that will bring about changes in health care delivery in and out of the hospital setting. Over the past several decades, genomic medicine has been one of the fastest growing fields in acute and chronic health care. This quick growth has created a lag in genomics knowledge and preparation among nurses and health care providers. Genomic medicine may lead to more precise evaluation, diagnosis, and management of selected acute care conditions. This article reviews the current state of genetic and genomics science and looks at the expanding field of genomic medicine’s integration into precision medicine. The aim of this article is to raise awareness and spark further inquiry to the remarkable field of genomics and precision medicine.

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Fitak, Robert R., Jennifer D. Antonides, Eric J. Baitchman, Elisa Bonaccorso, Josephine Braun, Steven Kubiski, Elliott Chiu i in. "The Expectations and Challenges of Wildlife Disease Research in the Era of Genomics: Forecasting with a Horizon Scan-like Exercise". Journal of Heredity 110, nr 3 (12.01.2019): 261–74. http://dx.doi.org/10.1093/jhered/esz001.

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Abstract The outbreak and transmission of disease-causing pathogens are contributing to the unprecedented rate of biodiversity decline. Recent advances in genomics have coalesced into powerful tools to monitor, detect, and reconstruct the role of pathogens impacting wildlife populations. Wildlife researchers are thus uniquely positioned to merge ecological and evolutionary studies with genomic technologies to exploit unprecedented “Big Data” tools in disease research; however, many researchers lack the training and expertise required to use these computationally intensive methodologies. To address this disparity, the inaugural “Genomics of Disease in Wildlife” workshop assembled early to mid-career professionals with expertise across scientific disciplines (e.g., genomics, wildlife biology, veterinary sciences, and conservation management) for training in the application of genomic tools to wildlife disease research. A horizon scanning-like exercise, an activity to identify forthcoming trends and challenges, performed by the workshop participants identified and discussed 5 themes considered to be the most pressing to the application of genomics in wildlife disease research: 1) “Improving communication,” 2) “Methodological and analytical advancements,” 3) “Translation into practice,” 4) “Integrating landscape ecology and genomics,” and 5) “Emerging new questions.” Wide-ranging solutions from the horizon scan were international in scope, itemized both deficiencies and strengths in wildlife genomic initiatives, promoted the use of genomic technologies to unite wildlife and human disease research, and advocated best practices for optimal use of genomic tools in wildlife disease projects. The results offer a glimpse of the potential revolution in human and wildlife disease research possible through multi-disciplinary collaborations at local, regional, and global scales.

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Greely, Henry T. "The Future of DTC Genomics and the Law". Journal of Law, Medicine & Ethics 48, nr 1 (2020): 151–60. http://dx.doi.org/10.1177/1073110520917003.

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Direct-to-Consumer (“DTC”) genomics has been a controversial topic for over a decade. Much work has been done on the legal issues it raises. This article asks a different question: What will DTC genomics and its legal issues look like in ten to twenty years? After discussing the five current uses of DTC genomics, it describes three current legal issues: medical uses, privacy of genomic information, and privacy in collection and analysis of human DNA. It then suggests that changes in human genomics and how it is used will make the first of those DTC genomics legal issues less important in the future, but that the third will be increasingly significant.

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Slygh, Lyn. "Genomics". American Biology Teacher 67, nr 2 (1.02.2005): 120. http://dx.doi.org/10.2307/4451796.

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Winkelman, Chris. "Genomics". Critical Care Nurse 24, nr 3 (1.06.2004): 34–45. http://dx.doi.org/10.4037/ccn2004.24.3.34.

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Brajuskovic, Goran. "Genomics". Vojnosanitetski pregled 63, nr 6 (2006): 604–10. http://dx.doi.org/10.2298/vsp0606604b.

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Chrispeels, Maarten J. "Genomics". Plant Physiology 118, nr 3 (1.11.1998): 713–14. http://dx.doi.org/10.1104/pp.118.3.713.

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