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

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 chi...

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Detalhes bibliográficos
Publicado no:JAMA Pediatr
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2017
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5710405/
https://ncbi.nlm.nih.gov/pubmed/28759686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamapediatrics.2017.1755
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