Article
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Human mutation - 1 Sept 2017
Daneshjou Roxana, Wang Yanran, Bromberg Yana, Bovo Samuele, Martelli Pier L, Babbi Giulia, Lena Pietro Di, Casadio Rita, Edwards Matthew, Gifford David, Jones David T, Sundaram Laksshman, Bhat Rajendra Rana, Li Xiaolin, Pal Lipika R, Kundu Kunal, Yin Yizhou, Moult John, Jiang Yuxiang, Pejaver Vikas, Pagel Kymberleigh A, Li Biao, Mooney Sean D, Radivojac Predrag, Shah Sohela, Carraro Marco, Gasparini Alessandra, Leonardi Emanuela, Giollo Manuel, Ferrari Carlo, Tosatto Silvio C E, Bachar Eran, Azaria Johnathan R, Ofran Yanay, Unger Ron, Niroula Abhishek, Vihinen Mauno, Chang Billy, Wang Maggie H, Franke Andre, Petersen Britt-Sabina, Pirooznia Mehdi, Zandi Peter, McCombie Richard, Potash James B, Altman Russ B, Klein Teri E, Hoskins Roger A, Repo Susanna, Brenner Steven E, Morgan Alexander A
Abstract excerpt
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype-phenotype prediction challenges; participants build models, undergo assessment, and share key findings. For CAGI 4, three challenges involved using exome-sequencing data:...
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