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畸形学未来展望。

Perspectives on the future of dysmorphology.

机构信息

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

Department of Pediatrics, University of Washington, Seattle, Washington, USA.

出版信息

Am J Med Genet A. 2023 Mar;191(3):659-671. doi: 10.1002/ajmg.a.63060. Epub 2022 Dec 9.

Abstract

The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have upended the field and offered fascinating new insights. Though difficult to predict the precise paths the field will follow, rapid change may continue to be inevitable. Within genetics, the practice of dysmorphology, as defined by pioneering geneticist David W. Smith in the 1960s as "the study of, or general subject of abnormal development of tissue form" has also been affected by technological advances as well as more general trends in biomedicine. To address possibilities, potential, and perils regarding the future of dysmorphology, a group of clinical geneticists, representing different career stages, areas of focus, and geographic regions, have contributed to this piece by providing insights about how the practice of dysmorphology will develop over the next several decades.

摘要

临床遗传学和基因组学领域一直在不断发展。在过去的几十年中,人类基因组的初步测序、测序技术的巨大变化以及人工智能的引入等里程碑事件颠覆了该领域,并提供了引人入胜的新见解。尽管很难预测该领域将遵循的确切路径,但快速变化可能仍将不可避免。在遗传学领域,由先驱遗传学家 David W. Smith 在 20 世纪 60 年代定义的畸形学实践也受到了技术进步以及生物医学更普遍趋势的影响。为了探讨未来畸形学的可能性、潜力和风险,一群代表不同职业阶段、关注领域和地理区域的临床遗传学家为此做出了贡献,他们提供了关于畸形学实践在未来几十年将如何发展的见解。

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