Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tan Tiong Yang; Dillon Oliver James; Stark Zornitza; Schofield Deborah; Alam Khurshid; Shrestha Rupendra; Chong Belinda; Phelan Dean; Brett Gemma R.; Creed Emma; Jarmolowicz Anna; Yap Patrick; Walsh Maie; Downie Lilian; Amor David J.; Savarirayan Ravi; McGillivray George; Yeung Alison; Peters Heidi; Robertson Susan J.; Robinson Aaron J.; Macciocca Ivan; Sadedin Simon; Bell Katrina; Oshlack Alicia; Georgeson Peter; Thorne Natalie; Gaff Clara; White Susan M.

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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

机译：伴随着单一形学条件的伴随伴侣儿童全面测序的诊断影响和成本效益

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IMPORTANCE Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding of who should be considered for testing and when it should be performed to maximize clinical utility and cost-effectiveness.

机译：重要性在儿科环境中，全外显子组测序（WES）的最佳使用需要了解应该考虑谁进行检测，以及何时进行检测，以最大限度地提高临床效用和成本效益。

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来源
《JAMA pediatrics》 |2017年第9期|共8页
作者
Tan Tiong Yang; Dillon Oliver James; Stark Zornitza; Schofield Deborah; Alam Khurshid; Shrestha Rupendra; Chong Belinda; Phelan Dean; Brett Gemma R.; Creed Emma; Jarmolowicz Anna; Yap Patrick; Walsh Maie; Downie Lilian; Amor David J.; Savarirayan Ravi; McGillivray George; Yeung Alison; Peters Heidi; Robertson Susan J.; Robinson Aaron J.; Macciocca Ivan; Sadedin Simon; Bell Katrina; Oshlack Alicia; Georgeson Peter; Thorne Natalie; Gaff Clara; White Susan M.;
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作者单位

Victorian Clin Genet Serv Melbourne Vic Australia;

Univ Melbourne Dept Paediat Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Murdoch Childrens Res Inst Melbourne Vic Australia;

Murdoch Childrens Res Inst Melbourne Vic Australia;

Univ Sydney Fac Pharm Sydney NSW Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Univ Melbourne Dept Paediat Melbourne Vic Australia;

Murdoch Childrens Res Inst Melbourne Vic Australia;

Royal Childrens Hosp Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

Murdoch Childrens Res Inst Melbourne Vic Australia;

Murdoch Childrens Res Inst Melbourne Vic Australia;

Murdoch Childrens Res Inst Melbourne Vic Australia;

Walter &

Eliza Hall Inst Med Res Melbourne Vic Australia;

Walter &

Eliza Hall Inst Med Res Melbourne Vic Australia;

Univ Melbourne Dept Paediat Melbourne Vic Australia;

Victorian Clin Genet Serv Melbourne Vic Australia;

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原文格式 PDF
正文语种 eng
中图分类儿科学;
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4. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions [J] . Tan Tiong Yang, Dillon Oliver James, Stark Zornitza, JAMA pediatrics . 2017,第9期

机译：伴随着单一形学条件的伴随伴侣儿童全面测序的诊断影响和成本效益
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机译：与具有疑似单一的单一疾病的儿童的模拟疾病特异性面板相比，Exome测序具有更高的诊断产量
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7. Computer diagnostics system of children's health condition in early age [C] . Berestneva, O.G., Gerget, . 2002

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机译：与可疑单基因疾病儿童相比外显子组测序与模拟疾病特异性检测组相比具有更高的诊断率
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机译：涉嫌单一疾病的婴儿婴幼儿的全外末端测序的预期评估

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

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