Table 1:
Parental low-level mosaicism rates in BHCMG cohort measured using ES, amplicon-based NGS, ddPCR, and BDA.
| Case | Variant (hg19) | ES (Variant/Total reads) | Amplicon-based NGS (Variant/Total reads) | ddPCR | BDA |
|---|---|---|---|---|---|
| 144-25-03 | chr9:g.84528435C>A | 17/338 (5.0%) | 1117/21427 (5.2%) | 4.2% | NT |
| 144-57-03 | chr9:g.404956C>T | 6/103 (5.8%) | 991/19330 (5.1%) | NT | NT |
| BAB3771 | chr2:g.44556121C>T | 6/82 (7.3%) | 245/2715 (9.0%) | 5.6% | 5.2% |
| BAB5936 | chr4:g.22421644A>G | 5/78 (6.4%) | 643/5805 (11.1%) | TF | 19.4% |
| BAB9818 | chr3:g.150661610G>C | 5/143 (3.5%) | 39/692 (5.6%) | NT | NT |
| BAB9852 | chr19:g.50920420C>T | 4/87 (4.6%) | 169/3548 (4.8%) | TF | NT |
| BAB8129 | chr2:g.180835608C>T | 4/57 (7.0%) | 865/16536 (5.2%) | TF | 1.3% |
| BAB8833 | chr2:g.232576565G>C | 1/29 (3.4%) | 260/3281 (7.9%) | TF | NT |
| Fam9-3 | chr3:g.101395501G>A | 11/121 (9.1%) | 214/3072 (7.0%) | 6.6% | NT |
| LP89-036f | chr15:g.65771401A>G | 2/44 (4.5%) | 529/38139 (1.4%) | NT | NT |
| OAVS-PT1F | chr6:g.84632035G>A | 1/49 (2.0%) | 4296/62505 (6.9%) | NT | NT |
| UT0133 | chr4:g.115544174C>T | 2/107 (1.9%) | 25/5001 (0.5%) | 0.3% | 0.3% |
| WPW070 | chr2:g.170129381T>G | 3/81 (3.7%) | 30/1660 (1.8%) | 1.5% | 1.7% |
| WPW160 | chr2:g.89161156A>G | 2/27 (7.4%) | 20/1721 (1.2%) | 15.6% | 20.5% |
| WPW405 | chr16:g.15732966A>G | 8/89 (9.0%) | 286/2508 (11.4%) | TF | NA |
| WPW421 | chr3:g.119367355G>C | 4/68 (5.9%) | 220/2701 (8.1%) | 7.7% | 10% |
NT – not tested, TF – technical failure