Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Background: Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from the intensive care unit (ICU). This study sought to examine the diagnostic and clinical utility, and the economic impact on...

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Bibliographic Details

Published in:	The Lancet Regional Health. Western Pacific
Main Authors:	Claudia C.Y. Chung, Gordon K.C. Leung, Christopher C.Y. Mak, Jasmine L.F. Fung, Mianne Lee, Steven L.C. Pei, Mullin H.C. Yu, Vivian C.C. Hui, Joshua C.K. Chan, Jeffrey F.T. Chau, Marcus C.Y. Chan, Mandy H.Y. Tsang, Wilfred H.S. Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel S.C. Wong, Rosanna M.S. Wong, Yu Lung Lau, Godfrey C.F. Chan, So Lun Lee, Kit San Yeung, Brian H.Y. Chung
Format:	Article
Language:	English
Published:	Elsevier 2020-08-01
Subjects:	Rapid whole-exome sequencing Paediatric Children Rare disease Precision medicine Healthcare cost-savings
Online Access:	http://www.sciencedirect.com/science/article/pii/S2666606520300018