Dr Alessandra Terracciano is part of the large team at the Medical Genetics Laboratory in the Bambino Gesù Children’s Hospital, Rome, Italy. She analyzes next-generation sequencing (NGS) data, with a focus on rare pediatric conditions. Her laboratory primarily works with samples from the Bambino Gesù Children’s Hospital across multiple specialties, but it also acts as an Italian reference center for some conditions, such as kidney diseases.
Dr Terracciano kicked off our symposium at the European Society of Human Genetics (ESHG) Conference 2022 by describing the laboratory workflows, tailored sequencing analytics, and multidisciplinary team meetings that enable the Bambino Gesù Children’s Hospital to successfully solve challenging pediatric cases. Afterwards, she kindly sat down with us to answer a few questions on her experience working with SOPHiA GENETICS and what she sees for our collaboration in the future.
Tell us a little bit about your collaborations with SOPHiA GENETICS
My experience with SOPHiA GENETICS started when developing the SOPHiA DDM™ Platform Nephropathies Solution. We collaborated to develop an enrichment kit and analytical pipeline that successfully discriminates the PKD1 gene from its pseudogene. Although it was a tricky request, by the end of the validation process, the performance of the application was very, very good! For more details about this collaboration, read the case study with Dr Antonio Novelli
I also worked with SOPHiA GENETICS on a validation program for the analysis of genes associated with metabolic diseases. Again, SOPHiA DDM™ Platform was very helpful, as the solution is very robust and able to detect point mutations and copy number variations (CNVs) at the same time.
SOPHiA DDM™ Platform is very user-friendly – the visualization makes it easy to analyze CNVs.
For whole-exome sequencing (WES), our lab performs a double-analysis. We use both our sequencer’s pipeline, and SOPHiA DDM™ Platform, which is particularly useful for tricky cases such as those involving CNVs.
What are your favorite SOPHiA DDM™ Platform features?
SOPHiA DDM™ Platform is very robust. I trust it, believe the data, and feel safe when using it. In addition, the platform is very user-friendly, with the visualization making it easy to analyze CNVs. It is also helpful that I can easily export data from the platform, for further analysis using other tools if necessary. The platform is very comprehensive. If I find, for example, a point mutation, I have access to all the relevant information about it, such as the ClinVar annotation, the frequency, and the experience of other users. I can tag variants myself and can see the tags made by any of my colleagues.
The platform is very comprehensive – I have access to all of the relevant information about a point mutation, for example
In your opinion, what role does SOPHiA GENETICS play in improving rare and inherited disease research in the future?
SOPHiA GENETICS have a very powerful tool for people to share their experience. Sharing information on NGS analysis for rare pediatric conditions is very important, especially for the interpretation of variants of uncertain significance (VUS).
SOPHiA DDM™ Platform is a very powerful tool for people to share their experience
We’d like to thank Dr Terracciano for her time and all her work. We look forward to continuing our successful collaboration with the Bambino Gesù Children’s Hospital.
