Table 1 Results of chromosome balanced translocation detection using single-tube long fragment read whole genome sequencing
Family | Chromosome | Region | Breakpoint position | Haplotype Block | No. of Informative SNPs* |
|---|---|---|---|---|---|
Husband in family 1 | chr7 | 7p36.2 | 153732372 | 152156179–154266719 | 58 |
chr13 | 13q34 | 111186281 | 100951856–112353444 | 895 | |
Wife in family 2 | chr9 | 9p21 | 28963900 | 27041315–28962818 | 351 |
chr9 | 9p21 | 28974360 | 27041315–28962818 | 351 | |
chr9 | 9p13 | 35323542 | 34699598–37179855 | 157 | |
chr10 | 10q23 | 95505222 | 94958183–97182128 | 109 | |
chr10 | 10q23 | 107382817 | 106665432–109757837 | 244 | |
chr11 | 11q12 | 39402584 | 38517134–40737956 | 243 | |
chr11 | 11q12 | 39402653 | 38517134–40737956 | 243 | |
chr11 | 11p12 | 39402655 | 38517134–40737956 | 243 |
