Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

Because a genetic diagnosis can guide clinical management and improve prognosis in critically ill patients, much effort has gone into developing methods that result in rapid, reliable results. The authors describe extremely rapid sequencing and analysis of the genomes of 12 patients, 5 of whom recei...

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Veröffentlicht in:	The New England journal of medicine 2022-02, Vol.386 (7), p.700-702
Hauptverfasser:	Gorzynski, John E, Goenka, Sneha D, Shafin, Kishwar, Jensen, Tanner D, Fisk, Dianna G, Grove, Megan E, Spiteri, Elizabeth, Pesout, Trevor, Monlong, Jean, Baid, Gunjan, Bernstein, Jonathan A, Ceresnak, Scott, Chang, Pi-Chuan, Christle, Jeffrey W, Chubb, Henry, Dalton, Karen P, Dunn, Kyla, Garalde, Daniel R, Guillory, Joseph, Knowles, Joshua W, Kolesnikov, Alexey, Ma, Michael, Moscarello, Tia, Nattestad, Maria, Perez, Marco, Ruzhnikov, Maura R.Z, Samadi, Mehrzad, Setia, Ankit, Wright, Chris, Wusthoff, Courtney J, Xiong, Katherine, Zhu, Tong, Jain, Miten, Sedlazeck, Fritz J, Carroll, Andrew, Paten, Benedict, Ashley, Euan A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Bioinformatics Child, Preschool Convulsions & seizures Critical Care Diagnosis Epilepsy Female Genetic screening Genetics Genetics General Genomes Humans Infant Infant, Newborn Laboratories Life Sciences Male Middle Aged Mutation Nanopore Sequencing - economics Nanopore Sequencing - methods Neurodevelopmental Disorders - diagnosis Neurodevelopmental Disorders - genetics Neurology Neurosurgery Neurosurgery General Patients Sequence Analysis, DNA - methods Status Epilepticus - genetics
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Beschreibung
Zusammenfassung:	Because a genetic diagnosis can guide clinical management and improve prognosis in critically ill patients, much effort has gone into developing methods that result in rapid, reliable results. The authors describe extremely rapid sequencing and analysis of the genomes of 12 patients, 5 of whom received a diagnosis.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMc2112090