Optical mapping was performed using the Irys system or Saphyr system, according to the manufacturer’s protocol (Bionano Genomics; San Diego, CA). For sample jg1a, high-molecular-weight genomic DNA from nucleated blood cells was nicked using the endonucleases Nt.BspQI or Nb.BssSI and then labeled with fluorophore-tagged nucleotides. The labeled DNA was imaged on the Irys system. For samples jg1b and jg1c, high-molecular-weight genomic DNA from nucleated blood cells was labeled using direct labeling and staining (DLS) chemistry. The labeled DNA was imaged on the Saphyr system.
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