Replies to post #64187 on Whale Team

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$BNGO Associate Director of R&D of diagnostic company GeneDx presented a Saphyr validation study for the detection of the disease-causing variants in FSHD and repeat expansion disorders such as Mytonic Dystrophy 1 and 2. For the 40 samples genotyped for the contraction causing FSHD and the 36 samples genotyped for CNBP gene expansion that causes Mytonic Dystrophy 2, the results generated with Saphyr had a sensitivity, specificity and Positive Predictive Value of 100%. 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