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
Aida graduated from the Institute of Medical Sciences, Santiago de Cuba. In 2004, she […]