Genomics in neurodevelopmental disorders: an avenue to personalized medicine

机译：神经发育障碍的基因组学：个性化医学的途径

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Despite the remarkable number of scientific breakthroughs of the last 100 years, the treatment of neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability) remains a great challenge. Recent advancements in genomics, such as whole-exome or whole-genome sequencing, have enabled scientists to identify numerous mutations underlying neurodevelopmental disorders. Given the few hundred risk genes that have been discovered, the etiological variability and the heterogeneous clinical presentation, the need for genotype—along with phenotype-based diagnosis of individual patients has become a requisite. In this review we look at recent advancements in genomic analysis and their translation into clinical practice.

机译：尽管在过去100年中取得了许多科学突破，但是神经发育障碍（例如自闭症谱系障碍，智力障碍）的治疗仍然是一个巨大的挑战。基因组学的最新进展，例如全外显子组或全基因组测序，已使科学家能够鉴定出神经发育障碍的众多突变。考虑到已发现的数百个风险基因，病因变异性和临床表现的异质性，对基因型的需求以及基于个体患者的基于表型的诊断已成为必要条件。在这篇综述中，我们着眼于基因组分析及其在临床实践中的最新进展。

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期刊名称 Experimental Molecular Medicine
作者
Dora C. Tărlungeanu; Gaia Novarino;
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作者单位

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年(卷),期 2018(50),8
年度 2018
页码 100
总页数 7
原文格式 PDF
正文语种
中图分类分子生物学;医学史;
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专利

1. Genomics in neurodevelopmental disorders: an avenue to personalized medicine [J] . Dora C. T?rlungeanu, Gaia Novarino Experimental & molecular medicine. . 2018,第8期

机译：神经发育疾病中的基因组学：个性化医学的途径
2. Health Coaching and Genomics—-Potential Avenues to Elicit Behavior Change in those at Risk for Chronic Disease: Protocol for Personalized Medicine Effectiveness Study in Air Force Primary Care: [J] . Allison A. Vorderstrasse, Geoffrey S. Ginsburg, William E. Kraus, Global Advances in Health and Medicine . 2013,第3期

机译：健康指导和基因组学-潜在的慢性病风险人群可能会导致行为改变：空军初级保健中个性化药物有效性研究的方案：
3. The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine [J] . Ashley Blau, Alison Brown, Lisa Mahanta, Journal of Personalized Medicine . 2016,第1期

机译：合作伙伴个性化医学的转化基因组学核心：促进研究向个性化医学的过渡
4. Establishing infrastructure in Personalized Medicine: The University of Maryland Program for Personalized and Genomic Medicine [C] . Shuldiner A.R., Pakyz R.E., Palmer K., International Congress on Personalized Medicine . 2014

机译：在个性化医学中建立基础设施：Maryland大学的个性化和基因组
5. Race, Genes and Health: Public Conceptions about the Effectiveness of Race-Based Medicine and Personalized Genomic Medicine. [D] . Feldman, Naumi Mira. 2014

机译：种族，基因与健康：关于基于种族的医学和个性化基因组医学有效性的公众观念。
6. Health Coaching and Genomics—Potential Avenues to Elicit Behavior Change in Those at Risk for Chronic Disease: Protocol for Personalized Medicine Effectiveness Study in Air Force Primary Care [O] . Allison A. Vorderstrasse, Geoffrey S. Ginsburg, William E. Kraus, 2013

机译：健康指导和基因组学—潜在的慢性病风险人群可能导致行为改变：空军初级保健中个性化药物有效性研究的方案
7. A Propitous Genetic Impact on Neurodevelopmental Disorders - A Flagstone for Personalized Medicine [O] . 2020

机译：对神经发育障碍的一个突出遗传影响 - 用于个性化医学的石板

Genomics in neurodevelopmental disorders: an avenue to personalized medicine

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