Preliminary study on the application of third-generation sequencing technology for the detection of chromosomal aneuploidies.
10.3760/cma.j.cn511374-20200306-00134
- VernacularTitle:三代测序技术在染色体变异检测中的应用初探
- Author:
Yuan LYU
1
;
Chuang LI
;
Huan LI
;
Jesse LI-LING
;
Caixia LIU
Author Information
1. Department of Gynecology and Obstetrics, Shengjing Hospital of China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. liucx@sj-hospital.org.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Chromosomes;
High-Throughput Nucleotide Sequencing;
Humans;
Sequence Analysis, DNA;
Technology
- From:
Chinese Journal of Medical Genetics
2021;38(4):339-342
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To apply nanopore third-generation sequencing for the detection of chromosomal aneuploidy samples, and explore its performance and application prospects.
METHODS:DNA extracted from two human cell lines with X chromosome monosomy and 22.5 Mb deletion in 7q11.23-q21.3 region was sequenced with a MinION sequencer, and the results were analyzed.
RESULTS:Respectively, 555 872 and 2 679 882 reads were obtained from the two samples within 24 hours, with genome coverage being 53.75% and 88.63%. With a sequencing depth of 0.81× and 2.40× , respectively, the abnormal chromosomal regions could be detected by comparative analysis using Minimap2.
CONCLUSION:With low-depth whole genome sequencing, the use of nanopore third-generation sequencing is expected to complete the detection and analysis of chromosomal aneuploidy samples within 24 hours, but its further application and promotion needs to overcome the cost constraints.
