“Toldot Genetics has provided us an invaluable help towards the genetic delineation of a clinical trait using whole exome sequencing”.
Recent advancement in sequencing technologies has made unique patients cohorts an invaluable resource for identifying genetic variations and their association with clinical traits using Next Generation Sequencing (NGS).
Exome sequencing of dozens of DNA samples and the analysis of the vast amount of resulting data require skills and expertise that are not commonly found in biotech companies, but the potential benefit from a large-scale genomic experiment on our precious cohort motivated us to initiate such an effort.
We worked with Toldot Genetics from the early phases of experimental design and all the way to genetic results with clinical meaning. The expertise of Toldot’s team was crucial both to the success of the experiment and to our perception of the results and their implications. Following a proper experiment design and an efficient analysis of the NGS data we now have leads of diagnostic significance for further development. We will surely consider Toldot’s services in the following stages of this project and in future projects involving any aspect of bioinformatics.