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Dr. Alex Hoischen, Radboud University, the Netherlands presents on his research use of OGM with Saphyr to solve undiagnosed genetic disease cases, reporting a preliminary 25% additional diagnostic yield for Saphyr. He discusses the case of a child with severe intellectual disability where sequencing with Illumina and PacBio technologies was unable to find pathogenic variants. Analysis of the family with Saphyr identified a deletion affecting the important brain gene NSF. Because the gene is near a duplicated area, the deletion had been invisible to the analysis by sequencing. In a child with a rare and aggressive brain tumor which is typically caused by a mutation in the SMARCB1 gene, three different sequencing technologies found no causative variants. Analysis with Saphyr identified a large insertion in the gene, which was missed by sequencing. Dr. Hoischen has solved at least 4 other previously unsolved genetic disease cases to be presented in the future. He concluded that Saphyr enables a cytogenetic revolution, especially for leukemia where current testing requires many parallel tests and where deep coverage of the genome with OGM provides a sensitivity that’s unmatched by sequencing technologies.