Rapid short-read sequencing and aneuploidy detection using minION nanopore technology

Shan Wei, Zev Williams

Research output: Contribution to journalArticle

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)37-44
Number of pages8
JournalGenetics
Volume202
Issue number1
DOIs
StatePublished - Jan 2016

Keywords

  • Bioinformatics
  • Cytogenetics
  • Nanopore
  • Rapid aneuploidy detection
  • Single-molecule sequencing

ASJC Scopus subject areas

  • Genetics

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