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Rapid Short-Read Sequencing and Aneuploidy Detection Using MinION Nanopore Technology.

ABSTRACT: MinION is a memory stick-sized nanopore-based sequencer designed primarily for single-molecule sequencing of long DNA fragments (>6 kb). We developed a library preparation and data-analysis method to enable rapid real-time sequencing of short DNA fragments (<1 kb) that resulted in the sequencing of 500 reads in 3 min and 40,000-80,000 reads in 2-4 hr at a rate of 30 nt/sec. We then demonstrated the clinical applicability of this approach by performing successful aneuploidy detection in prenatal and miscarriage samples with sequencing in <4 hr. This method broadens the application of nanopore-based single-molecule sequencing and makes it a promising and versatile tool for rapid clinical and research applications.

SUBMITTER: Wei S

PROVIDER: S-EPMC4701100 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

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Rapid Short-Read Sequencing and Aneuploidy Detection Using MinION Nanopore Technology.

Wei Shan S Williams Zev Z

Genetics 20151023 1

MinION is a memory stick-sized nanopore-based sequencer designed primarily for single-molecule sequencing of long DNA fragments (>6 kb). We developed a library preparation and data-analysis method to enable rapid real-time sequencing of short DNA fragments (<1 kb) that resulted in the sequencing of 500 reads in 3 min and 40,000-80,000 reads in 2-4 hr at a rate of 30 nt/sec. We then demonstrated the clinical applicability of this approach by performing successful aneuploidy detection in prenatal ...[more]

PMID: 26500254

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