Fig. 5: Workflow for following up on identification of a candidate variant by exome sequencing (ES). | Genetics in Medicine

Fig. 5: Workflow for following up on identification of a candidate variant by exome sequencing (ES).

From: Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Fig. 5

Note that this workflow is based on the data set presented in the present study, and is also specific to it (corresponding numbers of variants are indicated in parentheses). Gray sectors and corresponding percentages in pie charts indicate the remaining Sanger sequencing load

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