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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: 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
Langue:Inglês
Publié: National Academy of Sciences 2015
Sujets:
PNAS Plus
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires