TABLE 3.

Clinical validation of Small Sequence Changes ^a (SSC) up to 50bp with various level of Mitochondrial Heteroplasmy detection with long read sequencing.

Sample	Variant	Known Heteroplasmy level	Concordance ONT Long Reads heteroplasmy level b
NA24385	chrM_m.9518C>T	Heteroplasmy = 1%	Concordant at ∼2% Heteroplasmy (20alt/1,274X)
NA24385	chrM_m.13376T>C	Heteroplasmy = 2%	Concordant at ∼3% Heteroplasmy (34alt/1,280X)
NA24385	chrM_m.15737G>A	Heteroplasmy = 2%	Concordant at ∼3% Heteroplasmy (41alt/1,284X)
NA24385	chrM_m.6210T>C	Heteroplasmy = 7%	Concordant at ∼6% Heteroplasmy (82alt/1,201X)
NA11906	chrM_m.8344A>G	Heteroplasmy = 35%	Concordant at ∼39% Heteroplasmy (658alt/1,699X)
NA11605	chrM_m.3460G>A	Heteroplasmy = 95%	Concordant at ∼96% heteroplasmy (1835alt/1905X)
NA24385	chrM_m.1438A>G	Heteroplasmy = 100%	Concordant at ∼96% heteroplasmy (1146alt/1,193X)

^a Small sequence changes (SSC) include Single Nucleotide variants and short insertions, deletions, and combinations of thereof below 50bp.

^b Observed heteroplasmy is listed as a fraction of alternative variant (alt) out of total depth (X) at the region of interest.