Table 1.
Statistics of Target Region Sequencing Data
| Whole targeted region | Region used for fetal genotype deduction | SNP supported the transmitted haplotype in plasma | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Genotype | Mapped reads (Mb) | SNP marker | Mapped reads (Mb) | Dedup mean depth | depth ≥20 × | SNP marker | Phased SNP | M-hap0 | M-hap1 | F-hap0 | F-hap1 |
| Family A | ||||||||||||
| Mother | 17 M/βN | 18.77 | 12424 | 0.78 | 180.20 | 99.68% | 857 | 503 | 0 | 280 | 0 | 223 |
| Father | 41–42 M/βN | 21.66 | 12576 | 0.94 | 206.99 | 98.94% | 937 | |||||
| First child | βN/βN | 15.66 | 13014 | 0.53 | 133.26 | 99.44% | 834 | |||||
| Plasma | 17 M/41-42M | 151.40 | 12608 | 5.32 | 747.38 | 99.97% | 864 | |||||
| Amniotic fluid | 17 M/41-42M | 33.73 | 13152 | 1.05 | 256.42 | 98.93% | 862 | |||||
| Family B | ||||||||||||
| Mother | –SEA/αα | 20.78 | 12960 | 0.22 | 92.06 | 96.51% | 305 | 138 | 48 | 0 | 0 | 90 |
| Father | –SEA/αα | 23.54 | 12113 | 0.33 | 135.96 | 98.16% | 351 | |||||
| First child | –SEA/αα | 24.26 | 12341 | 0.37 | 151.11 | 98.57% | 338 | |||||
| Plasma | –SEA/–SEA | 100.41 | 13472 | 1.28 | 230.60 | 99.20% | 317 | |||||
| Amniotic fluid | –SEA/–SEA | 14.77 | 12639 | 0.30 | 129.93 | 89.03% | 315 | |||||
Dedup mean depth, mean depth after filtering of duplication reads; hap, haplotype; SEA, Southeast Asian.