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JA Clinical Reports

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Open Access 01-12-2022 | Polymerase Chain Reaction | Original article

Rapid detection of single nucleotide polymorphisms using the MinION nanopore sequencer: a feasibility study for perioperative precision medicine

Authors: Yoshiteru Tabata, Yoshiyuki Matsuo, Yosuke Fujii, Atsufumi Ohta, Kiichi Hirota

Published in: JA Clinical Reports | Issue 1/2022

Abstract

Introduction

Precision medicine is a phrase used to describe personalized medical care tailored to specific patients based on their clinical presentation and genetic makeup. However, despite the fact that several single nucleotide polymorphisms (SNPs) have been reported to be associated with increased susceptibility to particular anesthetic agents and the occurrence of perioperative complications, genomic profiling and thus precision medicine has not been widely applied in perioperative management.

Methods

We validated six SNP loci known to affect perioperative outcomes in Japanese patients using genomic DNA from saliva specimens and nanopore sequencing of each SNP loci to facilitate allele frequency calculations and then compared the nanopore results to those produced using the conventional dideoxy sequencing method.

Results

Nanopore sequencing reads clustered into the expected genotypes in both homozygous and heterozygous cases. In addition, the nanopore sequencing results were consistent with those obtained using conventional dideoxy sequencing and the workflow provided reliable allele frequency estimation, with a total analysis time of less than 4 h.

Conclusion

Thus, our results suggest that nanopore sequencing is a promising and versatile tool for SNP genotyping, allowing for rapid and feasible risk prediction of perioperative outcomes.

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Title: Rapid detection of single nucleotide polymorphisms using the MinION nanopore sequencer: a feasibility study for perioperative precision medicine
Authors: Yoshiteru Tabata
Yoshiyuki Matsuo
Yosuke Fujii
Atsufumi Ohta
Kiichi Hirota
Publication date: 01-12-2022
Publisher: Springer Berlin Heidelberg
Keyword: Polymerase Chain Reaction
Published in: JA Clinical Reports / Issue 1/2022
Electronic ISSN: 2363-9024
DOI: https://doi.org/10.1186/s40981-022-00506-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Rapid detection of single nucleotide polymorphisms using the MinION nanopore sequencer: a feasibility study for perioperative precision medicine

Abstract

Introduction

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusion

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