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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Dettagli Bibliografici
Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2015
Soggetti:
PNAS Plus
Accesso online: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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