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A commentary on the promise of whole-exome sequencing in medical genetics.

作者信息

Kaname Tadashi, Yanagi Kumiko, Naritomi Kenji

机构信息

Department of Medical Genetics, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan.

出版信息

J Hum Genet. 2014 Mar;59(3):117-8. doi: 10.1038/jhg.2014.7. Epub 2014 Feb 6.

DOI:10.1038/jhg.2014.7
PMID:24500682
Abstract
摘要

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本文引用的文献

1
The promise of whole-exome sequencing in medical genetics.全外显子组测序在医学遗传学中的应用前景。
J Hum Genet. 2014 Jan;59(1):5-15. doi: 10.1038/jhg.2013.114. Epub 2013 Nov 7.
2
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.临床全外显子测序用于孟德尔疾病的诊断。
N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.ACMG 临床外显子组和基因组测序中偶然发现报告的推荐标准。
慢性炎症对结肠黏膜细胞的遗传和表观遗传影响
Front Genet. 2021 Oct 26;12:722835. doi: 10.3389/fgene.2021.722835. eCollection 2021.
4
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.Cruxome：注释、解释和报告遗传变异的有力工具。
BMC Genomics. 2021 Jun 3;22(1):407. doi: 10.1186/s12864-021-07728-6.
5
Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.通过全外显子组测序在一名疑似MEGDEL综合征患者中鉴定SERAC1基因的rs797045105位点
Basic Clin Neurosci. 2020 Jul-Aug;11(4):549-556. doi: 10.32598/bcn.9.10.455. Epub 2020 Jul 1.
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Identifying genetic variants associated with ritodrine-induced pulmonary edema.鉴定与利托君诱导性肺水肿相关的遗传变异。
PLoS One. 2020 Nov 9;15(11):e0241215. doi: 10.1371/journal.pone.0241215. eCollection 2020.
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Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.纤毛病基因中的有害遗传变异会增加利托君诱发心脏和肺部副作用的风险。
BMC Med Genomics. 2018 Jan 24;11(1):4. doi: 10.1186/s12920-018-0323-4.
8
New tools and approaches to newborn screening: ready to open Pandora's box?新生儿筛查的新工具和新方法：准备好打开潘多拉魔盒了吗？
Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001842. doi: 10.1101/mcs.a001842.
9
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.临床全外显子组测序的未解决挑战：对终端用户观点的系统文献综述
BMC Med Genomics. 2016 Aug 11;9(1):52. doi: 10.1186/s12920-016-0213-6.
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
4
A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.关于外显子组测序在Joubert综合征及相关疾病中的诊断效用的评论
J Hum Genet. 2013 Feb;58(2):57. doi: 10.1038/jhg.2012.138. Epub 2012 Nov 29.
5
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.使用主动脉病基因panel 的下一代测序富集方法的直接比较-临床诊断视角。
BMC Med Genomics. 2012 Nov 14;5:50. doi: 10.1186/1755-8794-5-50.
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The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.外显子组测序在 Joubert 综合征及相关疾病中的诊断效用。
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Performance comparison of exome DNA sequencing technologies.外显子组 DNA 测序技术的性能比较。
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