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Fig. 5 | Acta Neuropathologica Communications

Fig. 5

From: Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

Fig. 5

PacBio SMRT sequencing of paired tumor/normal DNA resolves RB1 structural rearrangement. a Paired tumor/normal PacBio SMRT sequencing demonstrates complex structural variations (SVs) of the tumor aligned to GRCh38. Top: tumor SVs > 1 kb and copy number median-normalized to chromosome 13 coverage. Bottom: comparator normal SVs > 1 kb and copy number median-normalized to chromosome 13 coverage. Type of SVs denoted by a blue line (inversion) and green triangle (insertion). RB1 is denoted by the vertical black line. b Two somatic rearrangements within intron 17 of RB1. Coverage calculated as average of 100 kb bins. Read alignments of breakpoint-associated reads in RB1 are shown. Red reads are sense ( +) strand, blue reads are antisense (-) strand. Lines indicate regions of coverage depth loss corresponding to RB1 SVs

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