Preliminary study on the application of third-generation sequencing technology for the detection of chromosomal aneuploidies / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 339-342, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879581
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Technology
/
Chromosomes
/
Sequence Analysis, DNA
/
High-Throughput Nucleotide Sequencing
/
Aneuploidy
Type of study:
Diagnostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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