Table 3.
Repeat Type, Genetic Model, and Number of Samples Associated with Each Diagnosis for WGS_PF Cohort
| Class | MOI | Diagnosis | Expanded | Affected | Not Expanded |
|---|---|---|---|---|---|
| PolyQ | AD | HD | 13 | 13 | 105 |
| PolyQ | AD | SCA1 | 3 | 3 | 115 |
| PolyQ | AD | SCA3 | 1 | 1 | 117 |
| PolyQ | AD | DRPLA | 2 | 2 | 116 |
| PolyQ | AD | SBMA | 1 | 1 | 117 |
| 5' UTR | X | FRAXA | 16 | 16 | 102 |
| 5' UTR | X | FRAXA (pre) | 34 | 21 | 84 |
| 3' UTR | AD | DM1 | 17 | 17 | 101 |
| Intron | AR | FRDA | 25 | 14 | 93 |
| Total (FRAXA)a | 78 | 66 | 40 | ||
| Total (FRAXA pre) | 96 | 72 | 22 | ||
| Total (no FRAXA) | 62 | 51 | 56 |
The WGS_PF cohort consists of 118 individuals sequenced with Illumina PCR-free library preparation. Only the total number of samples is listed, rather than actual samples. Details of samples are available in Dolzhenko et al., 2017.17
a
Total only includes FXS individuals, and no intermediate pre-expansions. The “expanded” and “not expanded” entries add to 118 for each row.