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Webinar recording - Highly sensitive structural variant detection for medical genetics

Oct 4, 2019

In this webinar, Dr. Alexander Hoischen will discuss a study to systematically compare the sensitivity and specificity of high-resolution optical mapping in 100 leukemia samples and 50 samples with known germline cytogenetic aberrations against the standard-of-care workflow, and discuss how optical mapping can facilitate the next major advancements in medical genetics. This presentation supports the view that the combination of classical approaches could be largely replaced by high-resolution optical mapping as implemented on the Bionano Genomics Saphyr system.

Dr. Alexander Hoischen, Radboud University Medical Center

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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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