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Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

by Chubb, Henry , Gorzynski, John E , Christle, Jeffrey W , Ma, Michael , Knowles, Joshua W , Sedlazeck, Fritz J , Kolesnikov, Alexey , Ruzhnikov, Maura R.Z , Chang, Pi-Chuan , Grove, Megan E , Dunn, Kyla , Spiteri, Elizabeth , Perez, Marco , Monlong, Jean , Wright, Chris , Wusthoff, Courtney J , Xiong, Katherine , Carroll, Andrew , Ashley, Euan A , Fisk, Dianna G , Pesout, Trevor , Nattestad, Maria , Garalde, Daniel R , Jensen, Tanner D , Bernstein, Jonathan A , Guillory, Joseph , Paten, Benedict , Setia, Ankit , Samadi, Mehrzad , Zhu, Tong , Jain, Miten , Ceresnak, Scott , Moscarello, Tia , Baid, Gunjan , Goenka, Sneha D , Shafin, Kishwar , Dalton, Karen P

in 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

2022

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2022

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2022

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Journal Article

Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

Chubb, Henry,

Gorzynski, John E,

Christle, Jeffrey W,

Ma, Michael,

Knowles, Joshua W,

Sedlazeck, Fritz J,

Kolesnikov, Alexey,

Ruzhnikov, Maura R.Z,

Chang, Pi-Chuan,

Grove, Megan E,

Dunn, Kyla,

Spiteri, Elizabeth,

Perez, Marco,

Monlong, Jean,

Wright, Chris,

Wusthoff, Courtney J,

Xiong, Katherine,

Carroll, Andrew,

Ashley, Euan A,

Fisk, Dianna G,

Pesout, Trevor,

Nattestad, Maria,

Garalde, Daniel R,

Jensen, Tanner D,

Bernstein, Jonathan A,

Guillory, Joseph,

Paten, Benedict,

Setia, Ankit,

Samadi, Mehrzad,

Zhu, Tong,

Jain, Miten,

Ceresnak, Scott,

Moscarello, Tia,

Baid, Gunjan,

Goenka, Sneha D,

Shafin, Kishwar,

Dalton, Karen P

2022

Overview

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.

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Publisher

Massachusetts Medical Society

Subject

Adolescent

/ Bioinformatics

/ Child, Preschool

/ Convulsions & seizures

/ Critical Care

/ Diagnosis

/ Epilepsy