Visualization of disease-causing SVs in the “unsolved” subcohort in the form of cartoons and/or IGV screenshots, along with corresponding pedigrees. In two unrelated male patients (P0078963 in A,B, P0695060 in C,D) with muscular dystrophy, we found X-Chromosomal inversions (A–D). In both cases, DMD is disrupted (A,C), in one a second gene disruption adds to the phenotype (C). In a father and son with hereditary spastic paraplegia, we detected a deletion of REEP1 exon 6 (E–H). The deletion in P001782 and P0011781 is shown here as a cartoon (E) and as a screenshot in IGV (F). The deletion was also visualized by agarose gel electrophoresis, which confirms that both patients are heterozygous for the deletion (G). The pedigree of the family is shown in H. In a patient with adult-onset distal myopathy, a 65 kb duplication involving MYOT (I) was confirmed to be in tandem by LRS (J). The pedigree of the family is shown in K. Sequenced individuals are marked with an asterisk (*) in the pedigrees (B,D,G,H,K). (MD) Muscular dystrophy, (AD-HSP) autosomal dominant hereditary spastic paraplegia.
