The NeuroSeq collection comprises genomic data from patients with undiagnosed rare neurological disorders, clinically ascertained across the paediatric and adult spectrum at two sites in South Africa: Tygerberg Hospital (Stellenbosch University) and the Red Cross War Memorial Children's Hospital (University of Cape Town). The NeuroSeq study evaluates PacBio HiFi long-read whole-genome sequencing as a first-tier diagnostic test for inherited neurological disorders of presumed monogenic origin, in populations that remain substantially under-represented in genomic medicine. The primary objective is twofold: to determine the diagnostic yield of HiFi long-read sequencing as a first-tier test and to resolve, in a single assay, classes of genomic variation that are inaccessible to conventional and short-read testing, including structural variants, tandem-repeat expansions, DNA methylation, haplotype phasing, and variants within paralogous or highly repetitive loci, thereby improving molecular diagnosis and variant interpretation for these populations; and to support the discovery and characterisation of novel disease variants and mechanisms. Data are generated by 20X PacBio HiFi...
Access requires approval by the data custodian. The collection's description and structure are public; querying the data requires an approved request.
NeuroSeq Study is published on HiFi Solves.