Molecular diagnostic experience of whole-exome sequencing in adult patients

Posey Jennifer E.; Rosenfeld Jill A.; James Regis A.; Bainbridge Matthew; Niu Zhiyv; Wang Xia; Dhar Shweta; Wiszniewski Wojciech; Akdemir Zeynep H. C.; Gambin Tomasz; Xia Fan; Person Richard E.; Walkiewicz Magdalena; Shaw Chad A.; Sutton V. Reid; Beaudet Arthur L.; Muzny Donna; Eng Christine M.; Yang Yaping; Gibbs Richard A.; Lupski James R.; Boerwinkle Eric; Plon Sharon E.

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Molecular diagnostic experience of whole-exome sequencing in adult patients

机译：成年患者全外膜测序的分子诊断经验

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Purpose: Whole-exome sequencing (WES) is increasingly used as a diagnostic tool in medicine, but prior reports focus on predominantly pediatric cohorts with neurologic or developmental disorders. We describe the diagnostic yield and characteristics of WES in adults.

机译：目的：全面测序（WES）越来越多地用作医学中的诊断工具，但先前的报告主要关注具有神经系统或发育障碍的主要儿科队列。我们描述了成人中WES的诊断产量和特征。

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来源
《Genetics in medicine》 |2016年第7期|共8页
作者
Posey Jennifer E.; Rosenfeld Jill A.; James Regis A.; Bainbridge Matthew; Niu Zhiyv; Wang Xia; Dhar Shweta; Wiszniewski Wojciech; Akdemir Zeynep H. C.; Gambin Tomasz; Xia Fan; Person Richard E.; Walkiewicz Magdalena; Shaw Chad A.; Sutton V. Reid; Beaudet Arthur L.; Muzny Donna; Eng Christine M.; Yang Yaping; Gibbs Richard A.; Lupski James R.; Boerwinkle Eric; Plon Sharon E.;
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作者单位

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Program Struct &

Computat Biol &

Mol Biophys Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

Baylor Coll Med Human Genome Sequencing Ctr Houston TX 77030 USA;

Baylor Coll Med Dept Mol &

Human Genet Houston TX 77030 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
adult patients; whole-exome sequencing;

机译：成人患者;全拓序列;
入库时间 2022-08-20 03:12:27

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1. Molecular diagnostic experience of whole-exome sequencing in adult patients [J] . Posey Jennifer E., Rosenfeld Jill A., James Regis A., Genetics in medicine . 2016,第7期

机译：成年患者全外显子测序的分子诊断经验
2. Molecular diagnostic experience of whole-exome sequencing in adult patients [J] . Posey Jennifer E., Rosenfeld Jill A., James Regis A., Genetics in medicine . 2016,第7期

机译：成年患者全外膜测序的分子诊断经验
3. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience [J] . Hu Xuyun, Li Niu, Xu Yufei, Genetics in medicine . 2018,第9期

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4. Molecular SARS Research at the Chinese University of Hong Kong: from virus genomic sequencing to new diagnostics [C] . . -1

机译：香港中文大学的分子SARS研究：从病毒基因组测序到新的诊断方法
5. The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group. [D] . Honda, Stacey Ann Akemi. 2002

机译：分子诊断在两种疾病过程中的临床病理相关性中的意义：急性疾病中PSA血清水平，以及血栓形成患者和对照患者（按种族）的活化蛋白C抗性和因子V突变的患病率。
6. Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients [O] . Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, -1

机译：成年患者全基因组测序的分子诊断经验
7. New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre [O] . Ewa Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, 2016

机译：线粒体疾病诊断的新视角：在国家小儿科中心进行全基因组测序已有两年经验

Molecular diagnostic experience of whole-exome sequencing in adult patients

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