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Saphyr identifies all variants detected by the standard of care in cytogenetics

Jun 1, 2020

Dr. Rashmi Kanagal-Shamanna from the MD Anderson Cancer Center presented the study involving 100 samples of patients suffering from Myelodysplastic Syndrome (MDS), a precursor to AML. The clinical management of patients with MDS is largely determined by the number of structural aberrations detected, and therefore a single technology, like Saphyr, that is able to detect all CNVs and balanced rearrangements is desirable. A combined 39 aberrations that passed inclusion criteria were detected by karyotyping, and all of those variants were detected by Saphyr. Additionally, there was 100% concordance between Saphyr and calls made with CMA. Importantly, Bionano identified critical rearrangements important for prognostication of the disease and identified many novel aberrations that change the R-IPSS risk score, which would alter therapeutic management.

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Regina Fillerová

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BioNano Genomics

A revolutionary NanoChannel technology for Genome mapping of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias.

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Genome maps of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias

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Saphyr provides rapid, high-throughput, long-range genome mapping with unmatched structural variation discovery capabilities

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