A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application

Table 1 Retrospective evaluation of Pime-Seq in 4 PMD patients

Sample ID	Previously diagnosed pathogenic variants	Pime-Seq results
Sample ID	Previously diagnosed pathogenic variants	Variant	HF (%)
22TS0004	Homoplasmic m.11778A > G	m.11778A > G	94
22TS0005	Homoplasmic m.4300A > G	m.4300A > G	99
22TS0006	Homoplasmic m.4300A > G	m.4300A > G	100
22TS0007	Heteroplasmic m.8344A > G	m.8344A > G	65

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