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Rapid automated large structural variation detection in a diploid genome by next-generation mapping

Mar 28, 2017

Large structural variants such as deletions, duplications, inversions, and translocations are extensively present and many are known to affect biological functions and cause disease. The ultimate goal is to resolve these large complex structural variants (SVs) and place them in the correct haploid genome with correct location, orientation, and copy number. Current methods such as karyotyping, chromosomal microarray (CMA), PCR-based tests, and nextgeneration sequencing fail to reach this goal either due to limited resolution, low throughput, or short read length.

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Related technologies: Genome Mapping

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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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