Rapid Short-Read Sequencing and Aneuploidy Detection Using MinION Nanopore Technology.
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.
Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine. Bronx, New York 10461.
Shan
S
Wei
Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine. Bronx, New York 10461 zev.williams@einstein.yu.edu.
Zev
Z
Williams
D000782:Aneuploidy; D002478:Cells, Cultured; D005260:Female; D015723:Gene Library; D006801:Humans; D007621:Karyotyping; D008297:Male; D058608:Nanopores; D017422:Sequence Analysis, DNA / Q000379:methods*
bioinformatics; cytogenetics; nanopore; rapid aneuploidy detection; single-molecule sequencing