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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Dades bibliogràfiques
Publicat a:Proc Natl Acad Sci U S A
Autors principals: 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
Idioma:Inglês
Publicat: National Academy of Sciences 2015
Matèries:
PNAS Plus
Accés en línia: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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