Presentation Information

[P2-09-1]Long-read sequencing-based episignature and diagnostic utility of single-locus DNA methylation mark in Sotos syndrome

Takeshi Mizuguchi1, Nobuhiko Okamoto2, Taiki Hara1, Naoto Nishimura1, Masamune Sakamoto1, Li Fu1, Yuri Uchiyama1,3, Naomi Tsuchida1,3, Kohei Hamanaka1, Eriko Koshimizu1, Atsushi Fujita1, Kazuharu Misawa4,5, Kazuhiko Nakabayashi6, Satoko Miyatake1,7, Naomichi Matsumoto1,3,7 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, 4.Yokohama City University Graduate School of Data Science, 5.RIKEN Center for Advanced Intelligence Project, 6.Department of Maternal-Fetal Biology, National Center for Child Health and Development, 7.Department of Clinical Genetics, Yokohama City University Hospital)

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