Optical Genome Mapping Identifies Pathogenic Structural Variants in Genetic Disorders

Dr. Hayk Barseghyan, Professor at George Washington University in Washington, DC, uses Saphyr at Children’s National Hospital to study patients with Disorders of Sex Development and other undiagnosed genetic disease. Dr. Barseghyan presents on six cases solved with Saphyr, some including structural variants that had never before been reported in any genomic variant database. His work is an excellent example of how OGM with Saphyr may result in more patients receiving definitive diagnoses and more patients being managed effectively as the result of a higher diagnostic yield with Saphyr.