Replies to post #5032 on Frankiy's Moneymaker

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$BNGO Professor from the Mayo Clinic used Saphyr to resolve challenging genomic regions implicated in neurodegenerative diseases on 31 brain samples collected post-mortem from patients with ALS, Parkinson’s disease, and Alzheimer’s disease. One of the causes of ALS is an expansion of a repeat in a gene called C9orf72. While no technology commonly used today for genome analysis has been capable of spanning and measuring the larger repeat expansions of this gene, Dr. Ebbert was able to use the Saphyr system to size a range of expansions from a single brain biopsy, demonstrating a full continuum of mosaicism. In patients with Parkinson’s disease, Saphyr resolved the structure of an inverted triplication of an associated gene. In patients with Alzheimer’s disease, Saphyr detected structural variants in CR1, an important gene with a repeat structure that cannot be fully analyzed with next-generation sequencing, and detected inversions in the Tau gene that protect against the 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