A method and server for predicting damaging missense mutations.
Adzhubei, Ivan A, Schmidt, Steffen, Peshkin, Leonid, Ramensky, Vasily E, Gerasimova, Anna, Bork, Peer, Kondrashov, Alexey S, Sunyaev, Shamil R·2010·Nature Methods
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- Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structuresLi, Chang, Zhang, Lili, Zhuo, Zhongling, Su, Fei, Li, Hexin, Xu, Siyuan, Liu, Ye, Zhang, Zaifeng, Xie, Yibo, Yu, Xue et al. · 2023 · Theranostics
- Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2Marsh, Jacob A., Huang, Guangming, Bowling, Kevin, Renton, Alan E., Ziegemeier, Ellen, Ball, Torri, Pottier, Cyril, Cruchaga, Carlos, Day, Gregory S., Bateman, Randall J. et al. · 2025 · Neurotherapeutics
- Computational investigation unveils pathogenic LIG3 non-synonymous mutations and therapeutic targets in acute myeloid leukemiaHossen, Md. Arif, Jahan, Umme Mim Sad, Hossain, Md. Arju, Asif, Khalid Hossain, Rahman, Ahona, Ahmed, Sabbir, Uddin, Md. Moin, Amin, Md Faisal, Barik, Muhammad Abdul, Islam, Mohammod Johirul et al. · 2025 · PLOS One
- Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetesSchiabor Barrett, Kelly M., Telis, Natalie, McEwen, Lisa M., Burrows, Evanette K., Khuder, Basil, Judge, Daniel P., Pawloski, Pamala A., Grzymski, Joseph J., Washington, Nicole L., Bolze, Alexandre et al. · 2024 · Communications Medicine
- Interpreting noncoding genetic variation in complex traits and human diseaseWard, Lucas D, Kellis, Manolis · 2012 · Nature Biotechnology
- An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin familyXu, Jin, Yan, Qing, Song, Chengcheng, Liang, Jingjia, Zhao, Liang, Zhang, Xin, Weng, Zhenkun, Xu, Cheng, Liu, Qian, Xu, Shuqin et al. · 2021 · Hereditas
- An interpretable molecular framework for predicting cancer driver missense mutationsYang, Yan, Sun, Weikang, Liu, Yang, Zhang, Jian, Li, Minghui · 2026 · Proceedings of the National Academy of Sciences
- Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1Zheng, Feixia, Lin, Zhongdong, Hu, Ying, Shi, Xulai, Zhao, Qianlei, Lin, Zhenlang · 2023 · Journal of Clinical Medicine