Table 2 Example disease-associated variations resolved by LRS; additional examples in Additional file 1: Table S1
From: Applications of long-read sequencing to Mendelian genetics
Variant class | Associated disease - locus of interest | Long-read sequencing technology | Previous approaches | Details | Citation |
|---|---|---|---|---|---|
Trinucleotide repeat expansion | Neuronal intranuclear inclusion disease, oculopharyngeal myopathy with leukoencephalopathy, oculopharyngodistal myopathy | HiFi WGS | SR WGS | Characterization of trinucleotide repeat expansion in a candidate locus | [25] |
Single-nucleotide variant | Angelman syndrome | T-LRS ONT | SR WGS | Identification of the parent of origin of a pathogenic de novo variant | [133] |
Structural variations | Duchenne muscular dystrophy | ONT WGS | T-SRS, T-LRS | Identification and characterization of a pathogenic complex SV | [13] |
Hereditary cancer | ONT WGS | SR WGS | Reinterpretation and characterization of SVs in cancer patients | [134] | |
Retinitis pigmentosa | ONT WGS | T-SRS | Identification of two likely pathogenic SVs | [17] | |
Complex β-globin genes with SV clusters | T-LRS HiFi | MLPA | Haplotype characterization of complex SV-rich loci; breakpoint characterization of deletions, inversions, and duplications | [22] |