Can I read 3-Hour Genome Sequencing and Targeted Analysis to Rapidly Assess Genetic Risk on EtoBox?

3-Hour Genome Sequencing and Targeted Analysis to Rapidly Assess Genetic Risk by Miranda Galey; 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; Andrew B. Stergachis; Michael J. Bamshad; Evan E. Eichler; Danny E. Miller is a scholarly article available to read on EtoBox.

What is 3-Hour Genome Sequencing and Targeted Analysis to Rapidly Assess Genetic Risk about?

Rapid genetic testing in the critical care setting enables targeted evaluations, directs therapies, and helps families and care providers make informed decisions about goals of care. We tested whether we could perform ultra-rapid assessment of genetic risk for a Mendelian condition, based on information from an affected sibling, in a newborn via whole-genome sequencing using the Oxford Nanopore platform. By optimization of the DNA extraction and library preparation steps paired with targeted analysis, we were able to demonstrate within three hours of birth that the newborn was neither affected nor a carrier for variants underlying acrodermatitis enteropathica. This proof-of-concept experiment demonstrates how prior knowledge of familial variants can be used to rapidly evaluate an individual at-risk for a genetic disease.

Author

Miranda Galey; 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; Andrew B. Stergachis; Michael J. Bamshad; Evan E. Eichler; Danny E. Miller

Publisher

Cold Spring Harbor Laboratory

Published

2022

Language

EN