The status quo and future prospects of the next generation sequencing technologies in clinical diagnostics
10.3760/cma.j.issn.1009-9158.2017.07.001
- VernacularTitle:下一代测序技术临床应用现状和发展趋势
- Author:
Guohua XIE
;
Lisong SHEN
- Keywords:
High-throughput nucleotide sequencing;
Genetic counseling;
Databases;
factual
- From:
Chinese Journal of Laboratory Medicine
2017;40(7):483-485
- CountryChina
- Language:Chinese
-
Abstract:
During the past decade, tremendous progress has been made in terms of speed, read length, and throughput, along with a sharp reduction in per-base cost.Together, these advances democratized next generation sequence (NGS) and paved the way for the development of a large number of novel NGS applications in clinical diagnostics, especially in the field of non-invasive prenatal detection, rare genetic disease and cancer companion diagnostics.As technology advances, long-read single molecule sequencing began to emerge.Single cell, long-reads, transcriptome, and low cost will be the NGS direction.Due to the special nature of clinical testing, the current NGS clinical application system,including genetic counseling, testing standards, quality control, supervision, database construction etc, does not match the national conditions well and still faces a few challenges, needs to be constantly improved through the routine clinical practice in the future.
