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Fig. 2 | Journal of Translational Medicine

Fig. 2

From: Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Fig. 2

Pipeline design for WGS data analysis. Bioinformatics analysis including mapping, calling, filtering, and annotation of variants, followed by a pathogenicity analysis in which the candidate variants are prioritized and validated with the aim of finding the causal mutation and informing the patient. A reanalysis of the data is conducted when no candidate variants are identified in the first analysis. If no candidate variants are detected in any of the known IRD genes, causal mutations in novel genes are evaluated (discovery pipeline)

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