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.

补充材料1详细记录了南非囊性纤维化患者群体、疑似囊性纤维化患者以及疑似携带者的变异信息。这些变异通过下一代测序（NGS）技术被发现，并使用变异效应预测工具进行注释，通过Sanger测序进行验证。数据集中部分基因型信息是通过基因panel筛查获得的。补充材料2中的图表展示了用于Sanger测序以确认下一代测序发现的囊性纤维化跨膜导电调节因子（CFTR）基因变异的聚合酶链反应（PCR）扩增产物凝胶电泳。补充材料3展示了使用下一代测序技术获得的南非囊性纤维化患者的变异验证结果，包括质量控制色谱图、与CFTR基因的对齐以及变异的识别。