University of Pretoria
Browse
1/1
3 files

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

dataset
posted on 2024-01-30, 09:18 authored by Odette le GrangeOdette le Grange

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.

Funding

National Research Foundation (NRF) Postgraduate Scholarship, Grant Number: MND210528604505

South African Medical Research Council (SAMRC)

International Council on Mining and Metals (ICMM) General Studentship

History

Department/Unit

Institute for Cellular and Molecular Medicine

Sustainable Development Goals

  • 3 Good Health and Well-Being

Usage metrics

    Natural and Agricultural Sciences

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC