Completed Whole Exome Sequencing for 712 samples

In collaboration with the BROAD Institute we complete the exome sequencing for 712 samples of the ITAN collection.

These novel data will allow the genetic characterization of the vast majority of the ITAN dataset.

We plan to analyze these data in order to identify rare variants in family with high risk. Moreover we will apply a genetic family-based study for the detection of de-novo variations.