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Comparison of predicted and actual consequences of missense mutations

Miosge, Lisa; Field, Matthew; Sontani, Yovina; Cho, Eun; Johnson, Simon; Palkova, Anna; Balakishnan, Bhavani; Liang, Rong; Zhang, Yafei; Lyon, Stephen; Beutler, Bruce; Whittle, Belinda; Bertram, Edward; Enders, Anselm; Goodnow, Christopher; Andrews, Thomas Daniel


Each person's genome sequence has thousands of missense variants. Practical interpretation of their functional significance must rely on computational inferences in the absence of exhaustive experimental measurements. Here we analyzed the efficacy of these inferences in 33 de novo missense mutations revealed by sequencing in first-generation progeny of N-ethyl-N-nitrosourea- treated mice, involving 23 essential immune system genes. Poly- Phen2, SIFT, MutationAssessor, Panther, CADD, and Condel...[Show more]

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
Source: PNAS - Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1511585112


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