Browsing Research Articles (Paediatrics and Child Health) by Subject "Rare disease"

Browsing Research Articles (Paediatrics and Child Health) by Subject "Rare disease"

Sort by: Order: Results:

  • A bioinformatics pipeline for rare genetic diseases in South African patients 
    Schoonen, Maryke; Seyffert, Albertus S.; Van der Westhuizen, Francois H.; Smuts, Izelle (Academy of Science of South Africa, 2019-03-27)
    The research fields of bioinformatics and computational biology are growing rapidly in South Africa. Bioinformatics pipelines play an integral part in handling sequencing data, which are used to investigate the aetiology ...