Presentation Information
[P2-04-24]An effective framework predicting splicing single nucleotide variants in exome sequencing
○Yasuhiro Utsuno1, Kohei Hamanaka1,2, Masamune Sakamoto1,3, Naomi Tsuchida1,3, Yuri Uchiyama1,3, Eriko Koshimizu1, Atsushi Fujita1, Kazuharu Misawa1,5, Satoko Miyatake1,4, Takeshi Mizuguchi1, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University, Yokohama, Japan, 2.The Institute for the Advanced Study of Human Biology (ASHBi), Kyoto University, Kyoto, Japan, 3.Department Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 5.RIKEN Center for Advanced Intelligence Project, Tokyo, Japan)