Article
mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.
Human mutation - 1 Jan 2017
Li Zhongshan, Liu Zhenwei, Jiang Yi, Chen Denghui, Ran Xia, Sun Zhong Sheng, Wu Jinyu
Abstract excerpt
Exome sequencing has been widely used to identify the genetic variants underlying human genetic disorders for clinical diagnoses, but the identification of pathogenic sequence variants among the huge amounts of benign ones is complicated and challenging. Here, we describe a new Web server named mirVAFC for pathogenic sequence variants prioritizations from clinical exome sequencing (CES) variant data of single...
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