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- W3144320699 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." @default.
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- W3144320699 date "2021-04-10" @default.
- W3144320699 modified "2023-09-26" @default.
- W3144320699 title "[Preliminary study on the application of third-generation sequencing technology for the detection of chromosomal aneuploidies]." @default.
- W3144320699 doi "https://doi.org/10.3760/cma.j.cn511374-20200306-00134" @default.
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