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Optical Genome Mapping for FSHD Detection

 - June 29
Virtual - Online

Facioscapulohumeral muscular dystrophy (FSHD) is associated with the contraction of the D4Z4 macrosatellite in the 4q35 subtelomeric region. The most common technique for genetic diagnosis of FSHD is Southern Blotting which is tedious, difficult to interpret, and involves radioactive labelling, which limits its availability. In this webinar, molecular geneticist Jeroen Depreeuw, PhD, from Centrum Menselijke Erfelijkheid, UZ Leuven, discusses the potential of a new technique, called Optical Genome Mapping (OGM) with the Saphyr system from Bionano Genomics for FSHD detection. Based on the Leuven team’s validation study, they conclude that OGM is a powerful and robust technique for FSHD testing in genetic diagnostic laboratories, providing results that are completely concordant with the current gold standard Southern Blot analysis. Dr. Depreeuw will present details of the validation study and take questions from the audience.


Optical Genome Mapping: Unrivaled Structural Variant Detection for Cancer Research and Precision Medicine

 - June 30
Virtual - Online

Join us to discover how Optical Genome Mapping (OGM) can help you in the characterization of complex samples. OGM is a non-sequencing technique that provides a high-resolution view of intact, long DNA molecules free from the bias and errors introduced by Next-Generation Sequencing. Automatically identify all structural variants, genome-wide, starting at 500bp, including complex rearrangements and with sensitivity down to 1% allele fraction. Structural variants have nowhere to hide.


Population genomics of apricots unravels domestication history and adaptive events

Nature Communications 2021
Groppi A. et al
certified providers

INRAe Clermont-Ferrand

Gentyane is a platform offering Genomic services at INRAe Clermont-Ferrand. We intend to provide robust and new release technologies for  a complete genomic approach.

We carry out research and development activities using long reads sequencing, genotyping and optical mapping technologies.

Whether you are public or private, whether your project is low or high throughput, we will provide the most suitable strategy to answer your needs.


A cattle graph genome incorporating global breed diversity

bioRxiv 2021
Talenti A. et al


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