"Why it’s time to consider WGS as first-line genetic testing"
Until recently, whole genome sequencing (WGS) had been considered the genetic test of last-resort. However, thanks to technology advances in genetic testing, WGS is now being considered as a first-line genetic test in complex cases. WGS allows for the identification of almost all changes in a patient’s DNA by sequencing both the entire protein coding and the non-coding regions of the genome.
Your presenter, Dr. Aida M. Bertoli-Avella, Head of Research Data Analysis, will host this webinar explaining the reasons why WGS should be considered as first line genetic testing.
- Indications of genome sequencing in the clinical practice
- Factors influencing success of genome sequencing testing
- Relevance of non-coding variants
- Successful GS application in complex cases
Dr. Aida M. Bertoli-Avella, Head of Research Data Analysis
Dr. Aida M. Bertoli-Avella, MD graduated from the Institute of Medical Sciences, Santiago de Cuba. In 2004, she obtained her PhD in Human Genetics at the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands. She received several grants and was a recipient of the prestigious Erasmus Fellowship in 2009. Major research accomplishments include the discovery of mutations in several genes causing congenital cardiovascular diseases, which led to new diagnostic tests, improved patient care guidelines, and major scientific publications. After 18 years of experience in academia, she joined CENTOGENE GmbH in Germany, where she now serves as Head of Research Data Analysis.