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Re: Eagle1 post# 7451

Friday, 10/25/2019 10:45:10 AM

Friday, October 25, 2019 10:45:10 AM

Post# of 7536
$BNGO Professor at Baylor College of Medicine, who used data from the Saphyr system to analyze repeat-mediated inversions, which are complex genomic structures that are hard or impossible to resolve with other molecular methods but can predispose to genetic disease; Tina Graves-Lindsay from the McDonnell Genome Institute at Washington University, who corrected structural errors in the official human reference genomes with data generated with Saphyr; and Amir Trabelsi, CEO of Genoox, who announced the new release of a software pipeline that now automatically validates, annotates and classifies Bionano translocation calls from whole genome sequence data. 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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