{"id":1163,"date":"2018-07-26T18:38:14","date_gmt":"2018-07-26T18:38:14","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1163"},"modified":"2026-02-24T15:45:34","modified_gmt":"2026-02-24T15:45:34","slug":"rapid-paediatric-sequencing-raps-comprehensive-real-life-workflow-for-rapid-diagnosis-of-critically-ill-children","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/26\/rapid-paediatric-sequencing-raps-comprehensive-real-life-workflow-for-rapid-diagnosis-of-critically-ill-children\/","title":{"rendered":"Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children (Contributed by Dr. Hywel Williams)"},"content":{"rendered":"

To enable optimal care, critically ill children on intensive care units (ICU)s may benefit from rapid genetic\u00a0 diagnosis. We developed a workflow incorporating whole genome sequencing and causal variant identification in as little as 4 days. We investigated 24 individuals with suspected rare diseases on ICU at Great Ormond Street Hospital using this workflow. We made a diagnosis in 10 individuals (42%). In 3\/10 individuals (30%) the diagnosis significantly altered their clinical management.\u00a0 Our workflow adheres to the standards for National Health Service diagnostic laboratories and we provide full details of our methods for others to use locally. (https:\/\/jmg.bmj.com\/content\/early\/2018\/07\/24\/jmedgenet-2018-105396?papetoc<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

To enable optimal care, critically ill children on intensive care units (ICU)s may benefit from rapid genetic\u00a0 diagnosis. We developed a workflow incorporating whole genome sequencing and causal variant identification in as little as 4 days. We investigated 24 individuals with suspected rare diseases on ICU at Great Ormond Street Hospital using this workflow. We […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1163","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nRapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children (Contributed by Dr. Hywel Williams) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/07\/26\/rapid-paediatric-sequencing-raps-comprehensive-real-life-workflow-for-rapid-diagnosis-of-critically-ill-children\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children (Contributed by Dr. Hywel Williams) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"To enable optimal care, critically ill children on intensive care units (ICU)s may benefit from rapid genetic\u00a0 diagnosis. We developed a workflow incorporating whole genome sequencing and causal variant identification in as little as 4 days. We investigated 24 individuals with suspected rare diseases on ICU at Great Ormond Street Hospital using this workflow. 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