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

• Main Authors: Claudia C.Y. Chung (Author), Gordon K.C. Leung (Author), Christopher C.Y. Mak (Author), Jasmine L.F. Fung (Author), Mianne Lee (Author), Steven L.C. Pei (Author), Mullin H.C. Yu (Author), Vivian C.C. Hui (Author), Joshua C.K. Chan (Author), Jeffrey F.T. Chau (Author), Marcus C.Y. Chan (Author), Mandy H.Y. Tsang (Author), Wilfred H.S. Wong (Author), Joanna Y.L. Tung (Author), Kin Shing Lun (Author), Yiu Ki Ng (Author), Cheuk Wing Fung (Author), Mabel S.C. Wong (Author), Rosanna M.S. Wong (Author), Yu Lung Lau (Author), Godfrey C.F. Chan (Author), So Lun Lee (Author), Kit San Yeung (Author), Brian H.Y. Chung (Author)
• Format: Book
• Published: Elsevier, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...