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

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

Open Access

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

Author(s) -

Tiong Yang Tan,

Oliver James Dillon,

Zornitza Stark,

Deborah Schofield,

Khurshid Alam,

Rupendra Shrestha,

Belinda Chong,

Dean Phelan,

Gemma R. Brett,

Emma Creed,

Anna Jarmolowicz,

Patrick Yap,

Maie Walsh,

Lilian Downie,

David J. Amor,

Ravi Savarirayan,

George McGillivray,

Alison Yeung,

Heidi Peters,

Susan J. Robertson,

Aaron Robinson,

Ivan Macciocca,

Simon Sadedin,

Katrina M. Bell,

Alicia Oshlack,

Peter Georgeson,

Natalie Thorne,

Clara Gaff,

Susan M. White

Publication year - 2017

Publication title -

jama pediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.004

H-Index - 183

eISSN - 2168-6211

pISSN - 2168-6203

DOI - 10.1001/jamapediatrics.2017.1755

Subject(s) - medicine , exome sequencing , pediatrics , referral , medical diagnosis , ambulatory , genetic testing , family medicine , surgery , pathology , mutation , genetics , gene , biology

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.

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