Table 1. Variation in mtCN estimates from different methods.
Method | Tissue | Sample size | Mean | SD chromosomes | SD replicates |
---|---|---|---|---|---|
shotgun HiSeq | BL | 148 | 257 | 0.025 | 0.085 |
shotgun HiSeq | SM | 137 | 2873 | 0.032 | 0.032 |
shotgun HiSeq | LIV | 150 | 7023 | 0.026 | |
shotgun HiSeq | MM | 151 | 2788 | 0.026 | |
shotgun MiSeq | BL | 26 | 212 | 0.028 | 0.103 |
shotgun MiSeq | SM | 25 | 2885 | 0.022 | 0.044 |
capture-enrichment | BL | 139 | 159348 | 0.062 | |
capture-enrichment | SM | 150 | 404773 | 0.058 | |
capture-enrichment | LIV | 142 | 360418 | 0.063 | |
capture-enrichment | MM | 152 | 591684 | 0.063 | |
capture-enrichment | CEL | 151 | 393972 | 0.087 | |
capture-enrichment | CER | 150 | 387283 | 0.080 | |
capture-enrichment | CO | 150 | 394297 | 0.077 | |
capture-enrichment | KI | 149 | 725243 | 0.066 | |
capture-enrichment | LI | 47 | 217524 | 0.066 | |
capture-enrichment | OV | 149 | 419861 | 0.103 | |
capture-enrichment | SI | 152 | 254660 | 0.058 | |
capture-enrichment | SK | 149 | 408534 | 0.060 | |
ddPCR | BL | 150 | 260 | 0.134 | |
ddPCR | SM | 151 | 2744 | 0.101 |
For each combination of method and tissue, the sample size and mean mtCN estimate across individuals are given. For the sequence-based methods, the mean SD across chromosomes is given (SD-chromosomes); for the shotgun (re-sequencing of the same library and after preparation of new libraries) and ddPCR data from BL and SM tissue the mean SD across replicates for all individuals is given (SD-replicates). All SD values were normalized by the mean mtCN for each tissue.