Table 2. (TG)mTn haplotyping with an in-house script.
| Percentage of reads attributed to each (TG)mTn combination | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient | (TG)mTn haplotype | (TG)11T5 | (TG)12T5 | (TG)13T5 | (TG)10T7 | (TG)11T7 | (TG)12T7 | (TG)9T9 | (TG)10T9 | Others |
| T-42 | (TG)11T7/(TG)11T7 | 0 | 1 | 0 | 24 | 69 | 4 | 4 | 0 | 2 |
| T-63 | (TG)13T5/(TG)10T7 | 7 | 16 | 28 | 46 | 1 | 0 | 0 | 0 | 2 |
| T-51 | (TG)12T5/(TG)11T7 | 14 | 32 | 3 | 14 | 33 | 1 | 1 | 0 | 6 |
| T-62 | (TG)12T5/(TG)10T9 | 16 | 33 | 1 | 1 | 1 | 0 | 9 | 30 | 9 |
Table 2 illustrates the results obtained with our in-house script for different combination of (TG)mTn alleles. Values between 25 and 50 indicate heterozygosity and values above 50 indicate homozygosity. Usually about 10-30% of the reads lacked one or two TG repeat but the number of T repeat is correct. The script detects all the possible combinations of (TG)mTn but for a reason of clarity we only present results for combinations detected at > 5%.