作者
Kishore R Kumar, Mark J Cowley, Ryan L Davis
发表日期
2024/5/1
来源
Seminars in thrombosis and hemostasis
出版商
Thieme Medical Publishers
简介
Genetic sequencing technologies are evolving at a rapid pace with major implications for research and clinical practice. In this review, the authors provide an updated overview of next-generation sequencing (NGS) and emerging methodologies. NGS has tremendously improved sequencing output while being more time and cost-efficient in comparison to Sanger sequencing. The authors describe short-read sequencing approaches, such as sequencing by synthesis, ion semiconductor sequencing, and nanoball sequencing. Third-generation long-read sequencing now promises to overcome many of the limitations of short-read sequencing, such as the ability to reliably resolve repeat sequences and large genomic rearrangements. By combining complementary methods with massively parallel DNA sequencing, a greater insight into the biological context of disease mechanisms is now possible. Emerging …
引用总数
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KR Kumar, MJ Cowley, RL Davis - Seminars in thrombosis and hemostasis, 2024