Fig. 2
From: Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES
A DMD deletion in two cases. (A) Family pedigree with inheritance pattern of dmd variants in the case of proband 22-0007-C. Ref = Reference, Het = Heterozygous, Hemi = Hemizygous. Black nodes are documented as being affected. (B) Start point read placement and coverage for proband and both parents. Split reads are highlighted in red. (C) End point read placement and coverage for proband and both parents. Split reads are highlighted in red. (D) Family pedigree with inheritance pattern of dmd variants in the case of proband 22-0016-C. (E) Start point read placement and coverage for each sibling and both parents. Split reads are highlighted in red. (F) End point read placement and coverage for each sibling and both parents. Split reads are highlighted in red.
