Saphyr

Saphyr

Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in multiple diseases, including cancer and developmental disorders. In a diagnostic set-up, a comprehensive analysis of all molecular cytogenetic aberrations still requires a combination of different techniques, such as CNV-microarrays, karyotyping and fluorescence in situ hybridization.
Optical genome mapping with the Saphyr® System can detect all classes of structural variant ranging from 500bp to several Mb in length at high sensitivities, even those present at low allele fractions in heterogenous cancer samples, in an unbiased genome-wide manner. For mosaic samples or heterogeneous cancer samples, Saphyr detects all types of structural variants down to 1% variant allele fraction.

For more information contact stiblik@iabio.eu