FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2790084384> ?p ?o ?g. }

• W2790084384 abstract "Abstract Background Rare genetic conditions are frequent risk factors for, or direct causes of, organ failure requiring paediatric intensive care unit (PICU) support. Such conditions are frequently suspected but unidentified at PICU admission. Compassionate and effective care is greatly assisted by definitive diagnostic information. There is therefore a need to provide a rapid genetic diagnosis to inform clinical management. To date, Whole Genome Sequencing (WGS) approaches have proved successful in diagnosing a proportion of children with rare diseases, but results may take months to report or require the use of equipment and practices not compatible with a clinical diagnostic setting. We describe an end-to-end workflow for the use of rapid WGS for diagnosis in critically ill children in a UK National Health Service (NHS) diagnostic setting. Methods We sought to establish a multidisciplinary Rapid Paediatric Sequencing (RaPS) team for case selection, trio WGS, a rapid bioinformatics pipeline for sequence analysis and a phased analysis and reporting system to prioritise genes with a high likelihood of being causal. Our workflow was iteratively developed prospectively during the analysis of the first 10 children and applied to the following 14 to assess its utility. Findings Trio WGS in 24 critically ill children led to a molecular diagnosis in ten (42%) through the identification of causative genetic variants. In three of these ten individuals (30%) the diagnostic result had an immediate impact on the individual’s clinical management. For the last 14 trios, the shortest time taken to reach a provisional diagnosis was four days (median 7 days). Interpretation Rapid WGS can be used to diagnose and inform management of critically ill children using widely available off the shelf products within the constraints of an NHS clinical diagnostic setting. We provide a robust workflow that will inform and facilitate the rollout of rapid genome sequencing in the NHS and other healthcare systems globally. Funding The study was funded by NIHR GOSH/UCL BRC: ormbrc-2012-1" @default.
• W2790084384 created "2018-03-29" @default.
• W2790084384 creator A5009402007 @default.
• W2790084384 creator A5011715260 @default.
• W2790084384 creator A5012032832 @default.
• W2790084384 creator A5014189662 @default.
• W2790084384 creator A5035984708 @default.
• W2790084384 creator A5040258955 @default.
• W2790084384 creator A5045733414 @default.
• W2790084384 creator A5051795244 @default.
• W2790084384 creator A5059927050 @default.
• W2790084384 creator A5064079699 @default.
• W2790084384 creator A5068665016 @default.
• W2790084384 creator A5073220725 @default.
• W2790084384 creator A5077908939 @default.
• W2790084384 creator A5080441709 @default.
• W2790084384 creator A5080673903 @default.
• W2790084384 creator A5090916718 @default.
• W2790084384 date "2018-03-19" @default.
• W2790084384 modified "2023-09-27" @default.
• W2790084384 title "Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children" @default.
• W2790084384 cites W1808711893 @default.
• W2790084384 cites W2030140354 @default.
• W2790084384 cites W2051978340 @default.
• W2790084384 cites W2070809717 @default.
• W2790084384 cites W2098218556 @default.
• W2790084384 cites W2100407705 @default.
• W2790084384 cites W2101305463 @default.
• W2790084384 cites W2104549677 @default.
• W2790084384 cites W2110921888 @default.
• W2790084384 cites W2117131162 @default.
• W2790084384 cites W2143887298 @default.
• W2790084384 cites W2149992227 @default.
• W2790084384 cites W2165800754 @default.
• W2790084384 cites W2190569576 @default.
• W2790084384 cites W2231968663 @default.
• W2790084384 cites W2256016639 @default.
• W2790084384 cites W2547542398 @default.
• W2790084384 cites W2554756829 @default.
• W2790084384 cites W2560340240 @default.
• W2790084384 cites W2758717538 @default.
• W2790084384 cites W2765279867 @default.
• W2790084384 doi "https://doi.org/10.1101/283697" @default.
• W2790084384 hasPublicationYear "2018" @default.
• W2790084384 type Work @default.
• W2790084384 sameAs 2790084384 @default.
• W2790084384 citedByCount "1" @default.
• W2790084384 countsByYear W27900843842018 @default.
• W2790084384 crossrefType "posted-content" @default.
• W2790084384 hasAuthorship W2790084384A5009402007 @default.
• W2790084384 hasAuthorship W2790084384A5011715260 @default.
• W2790084384 hasAuthorship W2790084384A5012032832 @default.
• W2790084384 hasAuthorship W2790084384A5014189662 @default.
• W2790084384 hasAuthorship W2790084384A5035984708 @default.
• W2790084384 hasAuthorship W2790084384A5040258955 @default.
• W2790084384 hasAuthorship W2790084384A5045733414 @default.
• W2790084384 hasAuthorship W2790084384A5051795244 @default.
• W2790084384 hasAuthorship W2790084384A5059927050 @default.
• W2790084384 hasAuthorship W2790084384A5064079699 @default.
• W2790084384 hasAuthorship W2790084384A5068665016 @default.
• W2790084384 hasAuthorship W2790084384A5073220725 @default.
• W2790084384 hasAuthorship W2790084384A5077908939 @default.
• W2790084384 hasAuthorship W2790084384A5080441709 @default.
• W2790084384 hasAuthorship W2790084384A5080673903 @default.
• W2790084384 hasAuthorship W2790084384A5090916718 @default.
• W2790084384 hasBestOaLocation W27900843841 @default.
• W2790084384 hasConcept C142724271 @default.
• W2790084384 hasConcept C177212765 @default.
• W2790084384 hasConcept C177713679 @default.
• W2790084384 hasConcept C187212893 @default.
• W2790084384 hasConcept C2776376669 @default.
• W2790084384 hasConcept C2910207229 @default.
• W2790084384 hasConcept C2987404301 @default.
• W2790084384 hasConcept C2991859549 @default.
• W2790084384 hasConcept C41008148 @default.
• W2790084384 hasConcept C534262118 @default.
• W2790084384 hasConcept C71924100 @default.
• W2790084384 hasConcept C77088390 @default.
• W2790084384 hasConceptScore W2790084384C142724271 @default.
• W2790084384 hasConceptScore W2790084384C177212765 @default.
• W2790084384 hasConceptScore W2790084384C177713679 @default.
• W2790084384 hasConceptScore W2790084384C187212893 @default.
• W2790084384 hasConceptScore W2790084384C2776376669 @default.
• W2790084384 hasConceptScore W2790084384C2910207229 @default.
• W2790084384 hasConceptScore W2790084384C2987404301 @default.
• W2790084384 hasConceptScore W2790084384C2991859549 @default.
• W2790084384 hasConceptScore W2790084384C41008148 @default.
• W2790084384 hasConceptScore W2790084384C534262118 @default.
• W2790084384 hasConceptScore W2790084384C71924100 @default.
• W2790084384 hasConceptScore W2790084384C77088390 @default.
• W2790084384 hasLocation W27900843841 @default.
• W2790084384 hasLocation W27900843842 @default.
• W2790084384 hasLocation W27900843843 @default.
• W2790084384 hasLocation W27900843844 @default.
• W2790084384 hasLocation W27900843845 @default.
• W2790084384 hasOpenAccess W2790084384 @default.
• W2790084384 hasPrimaryLocation W27900843841 @default.
• W2790084384 hasRelatedWork W2040229957 @default.
• W2790084384 hasRelatedWork W2103593166 @default.
• W2790084384 hasRelatedWork W2110921888 @default.

• next