CNV assessment with clinical exome sequencing: advantages and challenges
WEBINAR DETAILS
About
At SOPHiA GENETICS, we collaborate with genetic experts to develop specialized next-generation sequencing (NGS) applications that seamlessly integrate into any laboratory workflow. Today, our partners share how the analytical technology and dedicated features in the SOPHiA DDM™️ Platform have enabled the accurate detection and streamlined assessment of variants associated with Rare Diseases.
Discover how the SOPHiA DDM™️ Platform successfully enabled the discovery of complex variants associated with genetic diseases using exome sequencing.
This talk took place at on June 11th in Glasgow, UK at the European Society of Human Genetics (ESHG) Conference 2023.
Researcher at the Genetics Department at Fundación Jimenez Díaz University Hospital, Madrid, Spain.
My research interest focuses on the identification of the genetics basis of human diseases, with an emphasis on pediatric conditions, and the influence of genetics on drug responses.
I have a bachelor degree in Pharmacy (by the Complutense...
SOPHiA GENETICS (Nasdaq: SOPH) is a healthcare technology company revolutionizing data-driven medicine and life sciences research. Their flagship product, the SOPHiA DDM™ Platform, empowers over 750 global institutions with cloud-based analytics and insights from diverse diagnostic datasets.