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$BNGO Professor from Emory University School of Medicine

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SpotOnTrade Member Level  Wednesday, 12/11/19 08:30:41 PM
Re: Zardiw post# 345297
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$BNGO Professor from Emory University School of Medicine used the Saphyr system to study a genetic syndrome characterized by intellectual disability, autism and a 40-fold increased risk for schizophrenia. She identified a high degree of previously undocumented structural variation in the disease region, identified a new gene previously not known to be involved in the disease, and was able to develop a new hypothesis about the disease mechanism from the data generated by Saphyr. 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

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