[2S11e] Beyond the Fusion of Biochemical Research and Bioinformatics

6:04 PM - 6:27 PM JST(9:04 AM - 9:27 AM UTC)

[2S11e-04] VarMeter2: a diagnostic method to predict the pathogenic missense variants based on the AlphaFold model

^○Yoshiki Yamaguchi¹, Akane Yabuki², Shiho Ohno¹, Noriyoshi Manabe¹, Jun-Ichi Furukawa³, Akira Togayachi⁴, Kiyoko Aoki-Kinoshita^3,4, Kiyohiko Angata⁴, Jin-Ichi Inokuchi⁵, Tadashi Kaname⁶, Shoko Nishihara^2,4 (1.Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, 2.Department of Bioinformatics, Graduate School of Engineering, Soka University, 3.Institute for Glyco-Core Research (iGCORE), Nagoya University, 4.Glycan and Life Systems Integration Center (GaLSIC), Soka University, 5.Forefront Research Center, Graduate School of Science, Osaka University, 6.Department of Genome Medicine, National Center for Child Health and Development)

キーテクノロジー：VarMeter技術

Keywords:

ミスセンスバリアント、希少疾患、AlphaFold、重篤度予測、タンパク質安定性

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