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Performance evaluation of pathogenicity-computation methods for missense variants

With expanding applications of next-generation sequencing in medical genetics, increasing computational methods are being developed to predict the pathogenicity of missense variants. Selecting optimal methods can accelerate the identification of candidate genes. However, the performances of differen...

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Detalles Bibliográficos
Autores principales: Li, Jinchen, Zhao, Tingting, Zhang, Yi, Zhang, Kun, Shi, Leisheng, Chen, Yun, Wang, Xingxing, Sun, Zhongsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125674/
https://www.ncbi.nlm.nih.gov/pubmed/30060008
http://dx.doi.org/10.1093/nar/gky678