Presentation Information
[P2-07-1]Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery
Li Fu1,2, Naomi Tsuchida1,3, Yuri Uchiyama1,3, Eriko Koshimizu1, Kohei Hamanaka1, Satoko Miyatake1,4, Takeshi Mizuguchi1, Atsushi Fujita1, Naomichi Matsumoto1,3,4 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama Japan, 2.Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo Japan, 3.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama Japan, 4.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama Japan)
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