下一代测序和产前“组学”：先进的诊断技术和对人类发育的新认识。
Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development.
机构信息
Department of Obstetrics & Gynecology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Department of Obstetrics & Gynaecology, University of Melbourne, Heidelberg, Victoria, Australia.
出版信息
Genet Med. 2018 Aug;20(8):791-799. doi: 10.1038/s41436-018-0087-4. Epub 2018 Jul 22.
Abstract
Prenatal genetics has evolved over the last decade to include application of new 'omics technologies to improve perinatal care. The clinical utility of these technologies when applied to direct fetal specimens from amniocentesis or chorionic villus sampling is being explored. In this review, we provide an overview of use of prenatal exome sequencing and role in evaluation of the structurally abnormal fetus, potential applications of genome sequencing, and finally, use of transcriptomics to assess placental and fetal well-being.
摘要
在过去的十年中，产前遗传学已经发展到包括应用新的“组学”技术来改善围产期护理。目前正在探索将这些技术应用于羊膜穿刺术或绒毛膜活检直接获得的胎儿标本时的临床实用性。在这篇综述中，我们提供了产前外显子组测序的使用概述及其在评估结构异常胎儿中的作用、基因组测序的潜在应用，以及最后使用转录组学评估胎盘和胎儿健康的情况。
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本文引用的文献
1
Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid.
Clin Chem. 2018 Apr;64(4):715-725. doi: 10.1373/clinchem.2017.281220. Epub 2018 Mar 15.
2
A single-cell RNA-seq survey of the developmental landscape of the human prefrontal cortex.
Nature. 2018 Mar 22;555(7697):524-528. doi: 10.1038/nature25980. Epub 2018 Mar 14.
3
Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.
Ultrasound Obstet Gynecol. 2018 Aug;52(2):205-211. doi: 10.1002/uog.19042. Epub 2018 Jun 25.
4
Whole Exome Sequencing: Applications in Prenatal Genetics.
Obstet Gynecol Clin North Am. 2018 Mar;45(1):69-81. doi: 10.1016/j.ogc.2017.10.003.
5
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
Clin Genet. 2018 Apr;93(4):860-869. doi: 10.1111/cge.13185. Epub 2018 Feb 23.
6
Identification of generic and pathogen-specific cord blood monocyte transcriptomes reveals a largely conserved response in preterm and term newborn infants.
J Mol Med (Berl). 2018 Feb;96(2):147-157. doi: 10.1007/s00109-017-1609-2. Epub 2017 Nov 13.
7
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
Ultrasound Obstet Gynecol. 2018 Apr;51(4):493-502. doi: 10.1002/uog.18915.
8
A brief review of single-cell transcriptomic technologies.
Brief Funct Genomics. 2018 Jan 1;17(1):64-76. doi: 10.1093/bfgp/elx019.
9
Genomic Patterns of De Novo Mutation in Simplex Autism.
Cell. 2017 Oct 19;171(3):710-722.e12. doi: 10.1016/j.cell.2017.08.047. Epub 2017 Sep 28.
10
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8.
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