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Accurate proteome-wide missense variant effect prediction with AlphaMissense.
Cheng J, Novati G, Pan J, Bycroft C, Žemgulytė A, Applebaum T, Pritzel A, Wong LH, Zielinski M, Sargeant T, Schneider RG, Senior AW, Jumper J, Hassabis D, Kohli P, Avsec Ž. Cheng J, et al. Science. 2023 Sep 22;381(6664):eadg7492. doi: 10.1126/science.adg7492. Epub 2023 Sep 22. Science. 2023. PMID: 37733863 Free article.
Assessing predictions of the impact of variants on splicing in CAGI5.
Mount SM, Avsec Ž, Carmel L, Casadio R, Çelik MH, Chen K, Cheng J, Cohen NE, Fairbrother WG, Fenesh T, Gagneur J, Gotea V, Holzer T, Lin CF, Martelli PL, Naito T, Nguyen TYD, Savojardo C, Unger R, Wang R, Yang Y, Zhao H. Mount SM, et al. Among authors: cheng j. Hum Mutat. 2019 Sep;40(9):1215-1224. doi: 10.1002/humu.23869. Epub 2019 Aug 19. Hum Mutat. 2019. PMID: 31301154 Free PMC article.
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