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Did you know that two-thirds of the human genome is repetitive, making it challenging for sequencing technologies to detect SVs. Bionano Genome Imaging can reveal these SVs with up to 99% sensitivity, or at allele fractions as low as 1%.
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Bionano identifies variants MISSED by short and long read sequencing! A case of familial cancer was studied for a decade but only Saphyr could detect the large tandem repeat upstream of the oncogene. https://t.co/qCBl3E30Dd
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