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

doi:10.1001/jamapediatrics.2017.1755

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Article

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

JAMA pediatrics - 1 Sept 2017

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

Abstract excerpt

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. Objectives: To investigate the impact of WES in sequencing-naive children suspected of having a monogenic disorder and evaluate its cost-effectiveness if WES had been available at...

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PMID: 28759686
DOI: 10.1001/jamapediatrics.2017.1755
PMCID: PMC5710405

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