About
This scientific evidence-webinar will discuss Genotypos Science Labs’ experience with a whole exome sequencing solution, supporting the detection of copy number variants for the management of a complex cases. DNA copy number variations (CNVs) are well-established cause of human genetic disease. Karyotype and microarray analyses have served as gold standards in molecular diagnostics for CNVs, but the increasing number and complexity of possible genomic changes require more sensitive testing (Gross, A.M et al, 2019).

The incorporation of robust CNV detection as a component of exome sequencing analyses has further improved outcomes. Whole exome analysis is emerging as a reliable tool in the study of genetic disorders and has proven to be particularly effective in identifying disease-associated genes that are refractory to linkage analysis. However, the detection of CNVs in whole exome analyses present unique challenges due to the increasing number of genomic changes present, resulting in additional noise and biases. Hence there is a need for a tailored and robust analytical solution for the detection and exome-wide analyses of CNVs.

In this webinar, Dr. Pantelis Constantoulakis, Director and Chief Genetic Officer of Genotypos Science Labs in Greece, will present his experience with Whole Exome Sequencing (WES). In particular, he will describe:
• How WES leads to improved results
• The streamlined workflow enabling the sensitive detection of CNVs
• A concrete case of a de novo CNV detection linked to growth retardation and hearing loss
When
on-demand webinar
Presenter
1571226-1556610220
SOPHiA GENETICS
Register To Watch Recording
Full name*
Email Address*
Company*
Job Title*
City*
Country*
Area of interest
Marketing Permission
SOPHiA GENETICS will use the information you provide on this form to be in touch with you and to provide updates and marketing. By checking this box, you agree on receiving emails from SOPHiA GENETICS. We will not share or sell your personal information. For more information, please read our privacy policy. You can unsubscribe anytime by clicking the unsubscribe link in the footer of our emails, or by contacting us at info@sophiagenetics.com
Yes, I consent to receiving emails*
We use BigMarker as our webinar platform. By clicking Register, you acknowledge that the information you provide will be transferred to BigMarker processing in accordance with their Terms of Service and Privacy Policy.