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Figure 2 | BMC Genetics

Figure 2

From: Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Figure 2

Pipeline designed for data analysis. Bioinformatic analysis including mapping, calling, filtering, and annotation of variants, followed by a pathogenicity analysis in which the candidate variants (CV) are prioritized and validated with the aim of finding the causal mutation and inform the patient. A reanalysis of regions with low coverage and WES will be conducted when no candidate variants (NCV) are identified.

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BMC Genomic Data

ISSN: 2730-6844

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