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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Pubblicato in:Lancet Reg Health West Pac
Autori principali: Chung, Claudia C.Y., Leung, Gordon K.C., Mak, Christopher C.Y., Fung, Jasmine L.F., Lee, Mianne, Pei, Steven L.C., Yu, Mullin H.C., Hui, Vivian C.C., Chan, Joshua C.K., Chau, Jeffrey F.T., Chan, Marcus C.Y., Tsang, Mandy H.Y., Wong, Wilfred H.S., Tung, Joanna Y.L., Lun, Kin Shing, Ng, Yiu Ki, Fung, Cheuk Wing, Wong, Mabel S.C., Wong, Rosanna M.S., Lau, Yu Lung, Chan, Godfrey C.F., Lee, So Lun, Yeung, Kit San, Chung, Brian H.Y.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
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Research Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8315561/
https://ncbi.nlm.nih.gov/pubmed/34327338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.lanwpc.2020.100001
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