Extended Data Fig. 4: Filtering process for annotated files. | Nature Medicine

Extended Data Fig. 4: Filtering process for annotated files.

From: Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy

Extended Data Fig. 4

The screening procedure according to the ACMG for (likely) pathogenic variants through annotated files is shown for a single sample. After deletion of some sites like high-frequency sites and synonymous sites, the preliminary analysis of the sites was performed through prediction software scoring. The remaining variants were further divided into categories based on the literature. All variants were verified by Sanger sequencing.

Back to article page