Comparison of predicted and actual consequences of missense mutations

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...

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Bibliographic Details
Published in:Proc Natl Acad Sci U S A
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: Artigo
Language:Inglês
Published: National Academy of Sciences 2015
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PNAS Plus
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4577149/
https://ncbi.nlm.nih.gov/pubmed/26269570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1511585112
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