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

Resilience project identifies the first 13 genetic heroes!

The Resilience Project has just published on Nature Biotechnology a new paper on the analysis of genomic data from more than 500k subjects in search for the so called "genetic heroes". The authors first aggregated genomic data from various sources, including 23andMe genotyping database, 1000G, ESP6500 and UK10K sequencing projects, Sweden exomes for schizophrenia research, CHOP sequencing program and others, to reach a total of 589,306 subjects with genomic data. Then they applied a strict filtering criteria to identify 13 healthy people bearing a pathogenic mutations for severe Mendelian childhood disease without showing any clinical symptoms.

Analyzing genomic data from these 13 "genetic heroes" the authors are now trying to study protective variants to understand the molecular mechanisms that have rescued the pathogenic mutations, with the potential to provide useful insight on how to treat the corresponding disease.