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Thread: Bionano Genomics Saphyr Optical Mapping technology

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    Bionano Genomics Saphyr Optical Mapping technology

    https://www.bloomberg.com/press-rele...peat-expansion

    The link is to a press release a week ago. This two year old technology is making waves in the field of structural variant analysis and copy number variant analysis. It covers what Next Generation Sequencing misses. The question is... how on earth can I gain access to this technology. I don't think it's terribly expensive, but expertise with this relatively new technology is apparently quite limited. I'm on the cusp of ordering from Veritas Genetics, but NGS has about a 63% error rate for structural variants. For whole genome medical analysis, this is the missing technology for evaluating a whole genome. But again, how can I find it? It is certainly not being marketed for retail consumer testing, so how to go about gaining access to the technology??? No whole genome sequence test is complete without this. Excerpt from the story -

    Professor Mark Ebbert 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, Parkinsonís disease, and
    Alzheimerís 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 Parkinsonís disease, Saphyr resolved
    the structure of an inverted triplication of an associated gene. In patients
    with Alzheimerís 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.

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