Optical genome mapping for structural variation analysis in constitutional diseases

Laila El Khattabi, PharmD PhD, Associate Professor at the University of Paris, presented on her previously published clinical validation study with Saphyr on 85 samples, a collaboration between three hospitals in France and one in the Netherlands. Her study consisted of patients with intellectual disability, infertility, a family history of genetic abnormalities, and prenatal samples. The 85 samples carried a total of 100 chromosomal abnormalities of various types. She concluded that Saphyr is 100% concordant with the combination of the standard cytogenetic tools, with an easier technical and analytical process, better resolution of breakpoints allowing for the identification of affected genes, and an easier interpretation because there is no overload of irrelevant sequence variants of unknown significance, which is common with sequencing.