Variant and genotype information following Next-generation sequencing (NGS) and Sanger sequencing of South African patients with cystic fibrosis

Supplementary 1 documents the variant information for a cohort of South African patients with cystic fibrosis, patients with suspected cystic fibrosis, and suspected carriers. The variants were discovered using next generation sequencing (NGS), annotated with variant effect prediction tools, and confirmed using sanger sequencing. Some genotype information in the dataset was obtained using gene panel screening.

The figures in Supplementary 2 show the gel electrophoresis of   polymerase chain reaction (PCR) amplicons generated for sanger sequencing to confirm variants found using next generation sequencing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in South African patients with cystic fibrosis.

Supplementary 3 shows the results of Sanger sequencing for confirmation of variants obtained using next generation sequencing for South African patients with cystic fibrosis. The quality controlled chromatograms, as well as their alignment to the CFTR gene and identification of variants are provided.