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
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