Table 2.

Example disease-associated variations resolved by LRS; additional examples in Additional file 1: Table S1

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]