Presentation Information

[P2-06-12]Evaluation of GestaltMatcher using patient data of congenital syndromes with facial phenotypes in Japan

Hiroyuki Mishima1,2, Tzung-Chien Hsieh3, Toyofumi Fujiwara4, Jing-Mei Li3, Sumito Dateki5, Koh-ichiro Yoshiura1,2, Tatsuro Kondoh6 (1.Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan, 2.Department of Human Genetics, Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 3.Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universitaet Bonn, Bonn, Germany, 4.Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan, 5.Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 6.Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan)

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