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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

Fig. 2

Reflex workflow for variant identification in the last exons of PMS2. a Overview of sequencing and analysis workflow for the last five exons of PMS2. Colored nodes correspond to boxes in (b). b Details corresponding to workflow steps in (a); the details of each box are described in Methods and Results. “No report” means the variant does not appear on patient reports. “Reflex” means the sample is sent for LR-PCR-based disambiguation to determine if the variant is localized to the gene or pseudogene

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