TWIST 定制和具有成本效益的 NGS 组合 - MedGenome 经验

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演讲者
Sakthivel Murugan SM 博士
MedGenome Labs Ltd 实验室运营副总裁

本次网络研讨会中涵盖的内容
定制 NGS 组合可在服务实验室中实现靶向且更具成本效益的样本测序
靶向组合具有核心内容,有助于靶向仅需要的基因集,从而降低检测成本。

Next-generation sequencing (NGS) offers the scalability, speed, and resolution to evaluate targeted genes of interest. 靶向组合具有核心内容,有助于靶向仅需要的基因集,从而降低检测成本。MedGenome labs has been performing exome testing and targeted panel testing by NGS over the last 8 years and have so far tested more than 100,000 samples. The challenge we face in the cost sensitive Indian market is in giving low cost tests that can be used by even the lower income group. We take pride in being the first to introduce the clinical exome panel (targeting only the clinically relevant genes) to the Indian market thereby ensuring the patients get a cost-effective, at the same time, clinically productive NGS test. We have been using the TWIST comprehensive exome the last two years the content of which has been well evaluated by us. It’s content is comparable and at times better than most of the currently available exomes in the market. Our diagnostic yield with the exomes has been comparable to the other exomes we were using till then and also comparable to the published data. We are also using 10 different TWIST targeted panels which gives us a cost-effective alternative to exomes. TWIST targeted somatic panels work well with the very bad quality FFPE too, with lesser failures due to bad quality data. Our experience with the team for panel designing and troubleshooting also have been excellent. To conclude, our experience with TWIST exomes and targeted panels have been very good and it offers us a good cost-effective option needed for the cost-sensitive Indian market.

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