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Structural variant (SV) discovery and genotyping. (A) Integrated pipeline for SV discovery, validation, and genotyping. (B) Example of a polymorphic deletion (highlighted in green), supported by discordantly mapping read pairs (red), split reads (blue), and read-depth (dark gray). Light gray boxes indicate individual sequencing reads. Indicated are a sample with the deletion (RAL-335) and one without (RAL-315) that variant.
