3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Purpose: Rapid genetic testing in the critical care setting may guide diagnostic evaluation, direct therapies, and help families and care providers make informed decisions about goals of care. We tested whether a simplified DNA extraction and library preparation process would enable us to perform ul...

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Bibliographic Details
Main Authors: Miranda P.G. Zalusky, Jonas A. Gustafson, Stephanie C. Bohaczuk, Ben Mallory, Paxton Reed, Tara Wenger, Erika Beckman, Irene J. Chang, Cate R. Paschal, Jillian G. Buchan, Christina M. Lockwood, Mihai Puia-Dumitrescu, Daniel R. Garalde, Joseph Guillory, Androo J. Markham, Michael J. Bamshad, Evan E. Eichler, Andrew B. Stergachis, Danny E. Miller
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Subjects:
Genetic testing
Genomics
Long-read sequencing
Nanopore
Ultrarapid sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424009798

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http://www.sciencedirect.com/science/article/pii/S2949774424009798

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