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Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?

作者信息

Wu Ann Chen, McMahon Pamela, Lu Christine

机构信息

Precision Medicine Translational Research (PROMOTER) Center, Harvard Pilgrim Health Care, Department of Population Medicine, Harvard Medical School, Boston, Massachusetts.

出版信息

JAMA Pediatr. 2020 Sep 1;174(9):821-822. doi: 10.1001/jamapediatrics.2020.1522.

DOI:10.1001/jamapediatrics.2020.1522
PMID:32597967
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7928067/
Abstract
摘要

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本文引用的文献

1
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.一项在重症婴儿中比较单体和 trio、快速基因组和外显子组测序的分析和诊断性能的随机、对照试验。
Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi: 10.1016/j.ajhg.2019.08.009. Epub 2019 Sep 26.
2
Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.外显子组和基因组测序结果披露相关的心理结果：七项临床测序探索性研究（CSER）联盟研究的荟萃分析。
Genet Med. 2019 Dec;21(12):2781-2790. doi: 10.1038/s41436-019-0565-3. Epub 2019 Jun 13.
3
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.基因组和外显子组测序以及染色体微阵列在疑似遗传疾病儿童中的诊断及临床应用的荟萃分析。
NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.
4
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.全外显子组和全基因组测序方法是否具有成本效益？文献系统评价。
Genet Med. 2018 Oct;20(10):1122-1130. doi: 10.1038/gim.2017.247. Epub 2018 Feb 15.
5
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.全外显子测序对那些诊断之旅接近尾声的患者的效用：是时候解决护理中的差距了。
Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22.