FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3044498434> ?p ?o ?g. }

• W3044498434 endingPage "100001" @default.
• W3044498434 startingPage "100001" @default.
• W3044498434 abstract "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 clinical management of rWES in patients beyond infancy and ICU setting.rWES was performed on a prospective cohort of patients with suspected monogenic disorder referred from territory-wide paediatric ICUs and non-ICUs in Hong Kong urging for rapid genetic diagnosis. All eligible families were invited. We aimed to achieve a rapid turnaround time (TAT) of 14 days. Clinical utility and costs associated with clinical management were assessed in diagnosed cases. Actual quantitative changes in healthcare utilisation were compared with a counterfactual diagnostic trajectory and/or with matched historical control whenever possible.rWES were offered to 102 families and 32/102 (31%) patients received a molecular diagnosis, with a median TAT of 11 days. Clinical management changed in 28 of 32 diagnosed patients (88%), including but not limited to modifications in treatment, avoidance of surgeries, and informing decisions on redirection of care. Cost analysis was performed in eight patients. rWES was estimated to reduce hospital length of stay by 566 days and decrease healthcare costs by HKD$8,044,250 (GBP£796,460) for these eight patients. The net cost-savings after inclusion of rWES costs were estimated to be HKD$5,325,187 (GBP£527,246).This study replicates the diagnostic capacity and rapid TAT of rWES in predominantly Chinese patients, and demonstrates diagnosis-predicated precision medicine and net healthcare savings. Findings were corroborated by evidence from multinational cohorts, combined as part of a meta-analysis. rWES merits consideration as a first-tier diagnostic tool for patients with urgent needs in the clinical setting.Health and Medical Research Fund, HKU Seed Fund for Basic Research, The Society for the Relief of Disabled Children, and Edward and Yolanda Wong Fund." @default.
• W3044498434 created "2020-07-29" @default.
• W3044498434 creator A5011569006 @default.
• W3044498434 creator A5014395574 @default.
• W3044498434 creator A5016149539 @default.
• W3044498434 creator A5019254712 @default.
• W3044498434 creator A5022639616 @default.
• W3044498434 creator A5023642309 @default.
• W3044498434 creator A5027962352 @default.
• W3044498434 creator A5035193463 @default.
• W3044498434 creator A5036757216 @default.
• W3044498434 creator A5048435930 @default.
• W3044498434 creator A5057380922 @default.
• W3044498434 creator A5058679358 @default.
• W3044498434 creator A5064784337 @default.
• W3044498434 creator A5068011452 @default.
• W3044498434 creator A5068560759 @default.
• W3044498434 creator A5069144750 @default.
• W3044498434 creator A5075713847 @default.
• W3044498434 creator A5077967856 @default.
• W3044498434 creator A5079912938 @default.
• W3044498434 creator A5087848546 @default.
• W3044498434 creator A5088651628 @default.
• W3044498434 creator A5088677665 @default.
• W3044498434 creator A5089497169 @default.
• W3044498434 creator A5090704243 @default.
• W3044498434 date "2020-08-01" @default.
• W3044498434 modified "2023-10-16" @default.
• W3044498434 title "Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs" @default.
• W3044498434 cites W1486877790 @default.
• W3044498434 cites W1835752389 @default.
• W3044498434 cites W1969600342 @default.
• W3044498434 cites W2007578931 @default.
• W3044498434 cites W2051978340 @default.
• W3044498434 cites W2100772802 @default.
• W3044498434 cites W2110921888 @default.
• W3044498434 cites W2143887298 @default.
• W3044498434 cites W2265992920 @default.
• W3044498434 cites W2582179052 @default.
• W3044498434 cites W2605739535 @default.
• W3044498434 cites W2739896399 @default.
• W3044498434 cites W2742511589 @default.
• W3044498434 cites W2758717538 @default.
• W3044498434 cites W2762508685 @default.
• W3044498434 cites W2778440734 @default.
• W3044498434 cites W2787126858 @default.
• W3044498434 cites W2793652580 @default.
• W3044498434 cites W2793936903 @default.
• W3044498434 cites W2795749588 @default.
• W3044498434 cites W2805193585 @default.
• W3044498434 cites W2889474983 @default.
• W3044498434 cites W2900673338 @default.
• W3044498434 cites W2922259456 @default.
• W3044498434 cites W2942272601 @default.
• W3044498434 cites W2949506289 @default.
• W3044498434 cites W2949804012 @default.
• W3044498434 cites W2953549708 @default.
• W3044498434 cites W2954428177 @default.
• W3044498434 cites W2956112893 @default.
• W3044498434 cites W2965232965 @default.
• W3044498434 cites W2975298736 @default.
• W3044498434 cites W3002322264 @default.
• W3044498434 cites W4301914226 @default.
• W3044498434 doi "https://doi.org/10.1016/j.lanwpc.2020.100001" @default.
• W3044498434 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8315561" @default.
• W3044498434 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34327338" @default.
• W3044498434 hasPublicationYear "2020" @default.
• W3044498434 type Work @default.
• W3044498434 sameAs 3044498434 @default.
• W3044498434 citedByCount "31" @default.
• W3044498434 countsByYear W30444984342020 @default.
• W3044498434 countsByYear W30444984342021 @default.
• W3044498434 countsByYear W30444984342022 @default.
• W3044498434 countsByYear W30444984342023 @default.
• W3044498434 crossrefType "journal-article" @default.
• W3044498434 hasAuthorship W3044498434A5011569006 @default.
• W3044498434 hasAuthorship W3044498434A5014395574 @default.
• W3044498434 hasAuthorship W3044498434A5016149539 @default.
• W3044498434 hasAuthorship W3044498434A5019254712 @default.
• W3044498434 hasAuthorship W3044498434A5022639616 @default.
• W3044498434 hasAuthorship W3044498434A5023642309 @default.
• W3044498434 hasAuthorship W3044498434A5027962352 @default.
• W3044498434 hasAuthorship W3044498434A5035193463 @default.
• W3044498434 hasAuthorship W3044498434A5036757216 @default.
• W3044498434 hasAuthorship W3044498434A5048435930 @default.
• W3044498434 hasAuthorship W3044498434A5057380922 @default.
• W3044498434 hasAuthorship W3044498434A5058679358 @default.
• W3044498434 hasAuthorship W3044498434A5064784337 @default.
• W3044498434 hasAuthorship W3044498434A5068011452 @default.
• W3044498434 hasAuthorship W3044498434A5068560759 @default.
• W3044498434 hasAuthorship W3044498434A5069144750 @default.
• W3044498434 hasAuthorship W3044498434A5075713847 @default.
• W3044498434 hasAuthorship W3044498434A5077967856 @default.
• W3044498434 hasAuthorship W3044498434A5079912938 @default.
• W3044498434 hasAuthorship W3044498434A5087848546 @default.
• W3044498434 hasAuthorship W3044498434A5088651628 @default.
• W3044498434 hasAuthorship W3044498434A5088677665 @default.
• W3044498434 hasAuthorship W3044498434A5089497169 @default.

• next