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Single-molecule optical mapping enables accurate molecular diagnosis of FSHD

May 3, 2018

One particular tandem repeat in the subtelomeric region of chromosome 4q can cause havoc when the number of repeat units drops. Contraction of a D4Z4 macrosatellite repeat in that region is associated with facioscapulohumeral muscular dystrophy or FSHD, one of the most common hereditary forms of muscle disease. Here, a novel approach for genetic diagnosis of FSHD was developed, by leveraging Bionano Saphyr single-molecule optical mapping platform and may be applied in clinical diagnostic settings once more validations are performed.

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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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