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

2017322 citationsJournal Article

Authors

Tiong Yang Tan · Victorian Clinical Genetics Services

Oliver James Dillon · University of Melbourne

Zornitza Stark · Murdoch Children's Research Institute

Deborah Schofield · Garvan Institute of Medical Research

Khurshid Alam · University of Melbourne

Rupendra Shrestha · University of Sydney

Belinda Chong

Abstract

Singleton WES in children with suspected monogenic conditions has high diagnostic yield, and cost-effectiveness is maximized by early application in the diagnostic pathway. Pediatricians should consider early referral of children with undiagnosed syndromes to clinical geneticists.

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetic factors in colorectal cancer

Publication Details

Published in: JAMA Pediatrics

Volume 171, Issue 9, pp. 855-855

DOI: 10.1001/jamapediatrics.2017.1755

Field-Weighted Citation Impact: 31.38

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

Authors

Abstract

Topics & Keywords

Publication Details