Thursday, 21 April 2016

There are exomes in Brescia!

Finally, after about two years of sequencing, our small lab was able to publish a little contribution to the world of exome sequencing. In the paper we performed a detailed evaluation of exome sequencing performances and technical optimizations using the Ion Proton platform with the Hi-Q chemistry.
No more than a drop in the ocean, but we are quite proud of it!

The article is published in open-access so everyone interested can take a look!

Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies
E.Damiati, G.Borsani, E.Giacopuzzi
Human Genetics, May 2016, Volume 135, Issue 5, pp 499-511

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