Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias
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Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias
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Many of the newly recognized clinically significant genetic markers in pediatric leukemias cannot be reliably detected by routine diagnostic assays; they remain cryptic by karyotype analysis and are typically not interrogated by FISH testing or by diagnostic next-generation sequencing panels.
In this webinar, Dr. Raca presents results of a pilot study in which Optical Genome Mapping (OGM) revealed clinically significant structural variants in pediatric leukemias, which were missed by comprehensive multi-modal clinical testing. She also illustrates the application of OGM to study a rare structural abnormality of the PAX5 gene in pediatric B-lymphoblastic leukemia, which could not be accurately characterized by other molecular methods.
Presenter(s)
Dr. Gordana Raca
Children’s Hospital Los Angeles
Dr. Gordana Raca - Children's Hospital Los Angeles
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