Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.
Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.
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产前诊断的新兴技术：整个基因组和RNA测序的应用。
作者：
近年来，用于临床基因检测的DNA测序技术得到了迅速发展，并在产前诊断领域日益重要。这篇综述的目的是对最近的发展进行概述，并描述它们如何有潜力填补目前临床实施的各种遗传疾病产前诊断方法的空白。研究表明，与外显子组测序相比，全基因组测序在产后检测中提供了一系列额外的好处，预计产前检测也会如此。rna测序，已经在出生后使用，可以为基于dna的检测提供有价值的补充数据，并有助于变异解释。虽然还没有为临床应用做好准备，但新兴技术，如长读和Hi-C测序分析，可能会为解释全基因组测序产生的不断扩大的遗传数据集增加工具箱。最后，我们还讨论了引入这些新兴技术的一些实际意义，这些技术在产前领域产生越来越大的基因组数据集。
DNA sequencing technologies for clinical genetic testing have been rapidly evolving in recent years, and steadily become more important within the field of prenatal diagnostics. This review aims to give an overview of recent developments and to describe how they have the potential to fill the gaps of the currently clinically implemented methods for prenatal diagnosis of various genetic disorders. It has been shown for postnatal testing that whole genome sequencing provides a set of added benefits compared to exome sequencing, and it is to be expected that this will be the case for prenatal testing as well. RNA-sequencing, already used postnatally, can provide valuable complementary data to DNA-based testing, and aid in variant interpretation. While not ready for clinical implementation, emerging technologies such as long-read and Hi-C sequencing analyses might add to the toolbox for interpreting the expanding genetic data sets generated by genome-wide sequencing. Lastly, we also discuss some more practical implications of introducing these emerging technologies, which generate larger and larger genomic data sets, in the prenatal field.
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影响因子：
3.7
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Lu, Xinyan;Shaw, Chad A.;Patel, Ankita;Li, Jiangzhen;Cooper, M. Lance;Wells, William R.;Sullivan, Cathy M.;Sahoo, Trilochan;Yatsenko, Svetlana A.;Bacino, Carlos A.;Stankiewicz, Pawel;Ou, Zhishu;Chinault, A. Craig;Beaudet, Arthur L.;Lupski, James R.;Cheung, Sau W.;Ward, Patricia A.
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MacArthur DG
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Chitty LS
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8.8
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通讯作者：
Bhoj, Elizabeth J.
影响因子：
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Chandler, Natalie;Best, Sunayna;Chitty, Lyn S.
通讯作者：
Chitty, Lyn S.