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Robust CNV Detection Using Whole-Exome Sequencing for Complex Cases

Monday, Oct 26, 2020

This webinar from SOPHiA GENETICS will discuss Genotypos Science Labs’ experience with a whole-exome sequencing solution supporting the detection of copy number variants (CNVs) for the management of complex cases.

CNVs are a 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.

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 presents unique challenges due to the large number of genomic changes present, resulting in noise and biases. Hence there is a need for a tailored and robust analytical solution for the detection and exome-wide analysis of CNVs.

In this webinar, Dr. Pantelis Constantoulakis, Director and Chief Genetic Officer of Genotypos Science Labs, will present his experience with whole-exome sequencing (WES). In particular, he will describe:

  • How WES leads to improved results
  • A streamlined workflow enabling the sensitive detection of CNVs

A concrete case of a de novo CNV detection linked to growth retardation and hearing loss.