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医学遗传学中人工智能的现状与未来展望

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.

作者信息

Solomon Benjamin D, Cheatham Morgan, de Guimarães Thales A C, Duong Dat, Haendel Melissa A, Hsieh Tzung-Chien, Javanmardi Behnam, Johnson Britt, Krawitz Peter, Kruszka Paul, Laurent Tim, Lee Ni-Chung, McWalter Kirsty, Michaelides Michel, Mohnike Klaus, Pontikos Nikolas, Guillen Sacoto Maria J, Shwetar Yousif J, Ustach Vincent D, Waikel Rebekah L, Woof William

机构信息

Medical Genomics Unit, National Human Genome Research Institute, Bethesda, Maryland, USA.

Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.

出版信息

Am J Med Genet A. 2025 May 15:e64118. doi: 10.1002/ajmg.a.64118.

DOI:10.1002/ajmg.a.64118
PMID:40375359
Abstract

Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will affect, medical genetics. The authors who contributed to this collection of essays intentionally represent different areas of expertise, career stages, and geographies, and include diverse types of clinicians, computer scientists, and researchers. The individual pieces cover a wide range of areas related to medical genetics; we expect that these pieces may provide helpful windows into the ways in which AI is being actively studied, used, and considered in medical genetics.

摘要

人工智能(AI)正在迅速改变日常生活的诸多方面,包括临床实践和生物医学研究。鉴于这种快速变革,以及在医学遗传学的背景下,我们召集了该领域的一批领军人物,以回应关于人工智能如何影响,特别是将如何影响医学遗传学的问题。为这本论文集撰稿的作者有意代表了不同的专业领域、职业阶段和地域,包括各类临床医生、计算机科学家和研究人员。各篇文章涵盖了与医学遗传学相关的广泛领域;我们期望这些文章能为人工智能在医学遗传学中如何被积极研究、应用和思考提供有益的视角。

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