Comparison of predicted and actual consequences of missense mutations

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 112; no. 37; pp. E5189 - E5198
• Main Authors: Miosge, Lisa A., Field, Matthew A., Sontani, Yovina, Cho, Vicky, Johnson, Simon, Palkova, Anna, Balakishnan, Bhavani, Liang, Rong, Zhang, Yafei, Lyon, Stephen, Beutler, Bruce, Whittle, Belinda, Bertram, Edward M., Enders, Anselm, Goodnow, Christopher C., Andrews, T. Daniel
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 15.09.2015; National Acad Sciences
• Series: PNAS Plus
• Subjects: Animals; Biological Sciences; Codon; Comparative analysis; Computational Biology; Computer Simulation; Exome; Experiments; Genetic Variation; Genome; Genome, Human; Genomes; Genotype; Humans; Immune System; Immunologic Deficiency Syndromes - genetics; Mice; Mice, Inbred C57BL; Models, Genetic; Mutation; Mutation, Missense; Neoplasms - genetics; Phenotype; PNAS Plus; Predictions; Rodents; Software; Tumor Suppressor Protein p53 - genetics; de novo mutation; nearly neutral; cancer; immunodeficiency; evolution

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...