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$BNGO MD., Ph.D., from Massachusetts General Hospital for Children at Harvard University presented results of a study on 19 samples from patients with Congenital Diaphragmatic Hernia (CDH), a common and severe structural birth defect that leads to malformation for the developing lungs. Using data from the Saphyr system, Dr. High’s team confirmed all high-confidence structural variants that were detected by cytogenetic methods, provided additional higher-resolution detail and elucidated the structure of several, and identified novel likely causative variants. Dr. High announced an upcoming larger study of 50 patient-parent trios, or 150 samples total, to identify novel structural variants that are causative for this disease.

http://www.globenewswire.com/news-release/2019/10/24/1934941/0/en/Takeaways-from-ASHG-2019-in-Houston-Users-of-Bionano-s-Saphyr-System-Presented-Validation-Results-for-FSHD-Repeat-Expansion-Disorders-and-Digital-Cytogenetics-Among-a-Growing-List-.html