Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5

The CAGI-5 PCM1 challenge aimed to predict the effect of 38 transgenic human missense mutations in the Pericentriolar Material 1 (PCM1) protein implicated in schizophrenia. Participants were provided with 16 benign variants (negative controls), 10 hypomorphic, and 12 loss of function variants. Six g...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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 Luigi, 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7354699/
https://ncbi.nlm.nih.gov/pubmed/31260570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23856
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