Suzanne de Bruijn

274 Chapter 5 A SLC26A4 Optical genome mapping B SLC26A4 Long read sequencing SLC26A4 CBLL1 CBLL1 107.3 M 107.35 M insertion insertion Figure S3. Optical genome mapping and long-read sequencing. Optical genome mapping (Bionano Genomics) and long- read sequencing (PacBio) were performed to detect potential structural variants (SVs) that could be present on the CEVA allele. (A) Optical genome mapping was performed using ultra-high molecular weight DNA isolated from peripheral blood cells from individual SLC012 (M1/CEVA). No SVs within the CEVA region or SLC26A4 were called. One insertion event was called just telomeric from the CEVA-haplotype, but was also called in in 100% of the control samples. (B) Hi-Fi sequencing reads visualized in IGV software. PacBio long-read sequencing was performed on genomic DNA isolated from peripheral blood from individual SLC079 (M1/CEVA). After sequencing analyses, no SVs remained that were present within the CEVA region or SLC26A4 . The same insertion event as depicted in A was detected using PacBio sequencing, but was also present in control data. The insertion event is therefore considered a reference problem and not a true SV.