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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2015
Assuntos:
PNAS Plus
Acesso em linha: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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