Fig. 2: Long-read sequencing detects structural variants and insertions of transposable elements in participants 1, 2, 3, and 4 (P1, P2, P3, and P4).

A Read visualization in the Integrative Genomics Viewer (IGV). The figure shows the pairs of linked reads in green and blue, both covering the duplication of exon 5. The left-lower part of the panel represents the specific PCR and RT-PCR amplification assay to confirm the exon 5 duplication in gDNA and cDNA. The primers used for RT-PCR are indicated in the figure. The upper part depicts the wild-type allele (WT) and the lower part the allele with the structural variant (SV), the duplication is marked in red. The forward (F) and reverse (R) primers used for the amplification are represented as black arrows. The right-lower part of the panel shows the agarose gel results of the specific PCR. B Read visualization in IGV. The figure shows, marked by a red rectangle, the insertion of a fragment of a Long Interspersed Nuclear Element (LINE) in the exon 10 of GYS2. The left-lower part of the panel represents the specific PCR amplification assay to confirm the LINE insertion. F and R primers are marked with black arrows. The right-lower part of the panel shows the agarose gel results. C Read visualization in IGV of the results for P3. The figure shows, marked by a red rectangle, the insertion detected in intron 8 of PEX1. D Read visualization in IGV of the results for P4. The figure shows, marked by a red rectangle, the LINE fragment insertion detected in the 3’ region of SLC2A1. MW molecular weight marker, C control sample, P parental sample, M Maternal sample.