Article
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
Human mutation - 1 Sept 2019
Monzon Alexander Miguel, Carraro Marco, Chiricosta Luigi, Reggiani Francesco, Han James, Ozturk Kivilcim, Wang Yanran, Miller Maximilian, Bromberg Yana, Capriotti Emidio, Savojardo Castrense, Babbi Giulia, Martelli Pier L, Casadio Rita, Katsonis Panagiotis, Lichtarge Olivier, Carter Hannah, Kousi Maria, Katsanis Nicholas, Andreoletti Gaia, Moult John, Brenner Steven E, Ferrari Carlo, Leonardi Emanuela, Tosatto Silvio C E
Abstract excerpt
The CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic human missense mutations in the PCM1 protein implicated in schizophrenia. Participants were provided with 16 benign variants (negative controls), 10 hypomorphic, and 12 loss of function variants. Six groups participated and were asked to predict the probability of effect and standard deviation associated to each...
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