Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
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Published:2021-11-15
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Volume:
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ISSN:1018-4813
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Container-title:European Journal of Human Genetics
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language:en
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Short-container-title:Eur J Hum Genet
Author:
Denommé-Pichon Anne-SophieORCID, Vitobello AntonioORCID, Olaso RobertORCID, Ziegler Alban, Jeanne MédéricORCID, Tran Mau-Them Frédéric, Couturier Victor, Racine CarolineORCID, Isidor Bertrand, Poë Charlotte, Jouan Thibaud, Boland AnneORCID, Fin Bertrand, Bacq-Daian Delphine, Besse Céline, Garde Aurore, Prost Adeline, Garret PhilippineORCID, Tisserant Émilie, Delanne Julian, Nambot Sophie, Juven Aurélien, Gorce Magali, Nizon MathildeORCID, Vincent MarieORCID, Moutton SébastienORCID, Fradin Mélanie, Lavillaureix Alinoë, Rollier Paul, Capri Yline, Van-Gils Julien, Busa Tiffany, Sigaudy Sabine, Pasquier LaurentORCID, Barth Magalie, Bruel Ange-LineORCID, Flamant Cyril, Prouteau Clément, Bonneau Dominique, Toutain AnnickORCID, Chantegret Corinne, Callier Patrick, Philippe Christophe, Duffourd Yannis, Deleuze Jean-François, Sorlin Arthur, Faivre Laurence, Thauvin-Robinet ChristelORCID
Funder
Conseil régional de Bourgogne-Franche-Comté Genzyme Dijon Bourgogne University Hospital Sanofi genzyme
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference42 articles.
1. FitzPatrick DR, Skeoch CH, Tolmie JL. Genetic aspects of admissions to a paediatric intensive care unit. Arch Dis Child. 1991;66:639–41. 2. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019;21:2413–21. 3. OMIM. OMIM Entry Statistics. 2019. https://www.omim.org/statistics/entry 4. Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med. 2018;3:10. 5. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012;4:154ra135.
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