The next-generation sequencing technology and application

As one of the key technologies in biomedical research, DNA sequencing has not only improved its productivity with an exponential growth rate but also been applied to new areas of application over the past few years. This is largely due to the advent of newer generations of sequencing platforms, offering ever-faster and cheaper ways to analyze sequences. In our previous review, we looked into technical characteristics of the next-generation sequencers and provided prospective insights into their future development. In this article, we present a brief overview of the advantages and shortcomings of key commercially available platforms with a focus on their suitability for a broad range of applications.

Restriction endonucleases fingerprinting-single strand conformation polymorphism: an efficient method to screen mutations in long segments / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To develop a simple, cheap and efficient restriction endonucleases fingerprinting-single strand conformation polymorphism(REF-SSCP) method applied to screen for mutations in long segments.</p><p><b>METHODS</b>The genomic DNA of Cx26 gene segment of the patients with deafness was amplified. The amplification products were screened with SSCP and REF-SSCP technique and DNA sequencing to evaluate and compare the effect on detection of mutations in long segments.</p><p><b>RESULTS</b>No different band was found in 724 bp segment in SSCP examination. Three kinds of different bands were discovered in REF-SSCP examination and the 79 G -->A mutation detected by DNA sequencing were accorded with the REF-SSCP bands entirely. The rate of detection was 100%.</p><p><b>CONCLUSION</b>The present REF-SSCP method is applicable to screen mutations in long segment DNA of mass specimens.</p>