Table 1.
Sequel II results in family E and L2 and L3 patients carrying more than 1000 CTG repeats.
| Sample | Total CCS Reads | % CCS Reads on-Target | % on-Target Reads Full-Length | Full DM1 Reads | Total Reads Analyzed | Reads < 50 CTG | Reads ≥ 50 CTG | % Expanded Allele | Estimated Repeat Size (Mode) | CCG Interruptions |
|---|---|---|---|---|---|---|---|---|---|---|
| E1 | 94,411 | 99.37 | 84 | 79,224 | 10,000 | 724 | 9276 | 93 | 5, ~447 (1099 max rpt) |
No obvious interruption |
| E2.1 | 110,578 | 99.54 | 87 | 95,756 | 9999 | 627 | 9372 | 94 | 13, ~383 (831 max rpt) |
2–3x CCG |
| E3 | 67,182 | 99.61 | 89 | 59,342 | 10,000 | 375 | 9625 | 96 | 31, ~173 and ~215 (478 max rpt) |
6x CCG |
| L2 | 48,310 | 99.10 | 79 | 37,727 | 10,000 | 1291 | 8709 | 87 | 5, ~957 (2138 max rpt) |
No obvious interruption |
| L3 | 29,512 | 99.02 | 77 | 22,625 | 9999 | 1670 | 8329 | 83 | 5, ~1156 (2081 max rpt) |
No obvious interruption |
| A4.1 | 50,300 | 99.62 | 89 | 44,745 | 10,000 | 721 | 9279 | 93 | 5, ~109 (245 max rpt) |
1x CAG |
| 1201 | 37,407 | 99.44 | 85 | 31,683 | 9999 | 1813 | 8186 | 82 | 5, ~118 (619 max rpt) |
No obvious interruption |
| B2 | 57,255 | 99.3 | 84 | 47,745 | 9995 | 1075 | 8920 | 89 | 5, ~292 (802 max rpt) |
3x CCG |
| 5289 | 42,349 | 99.31 | 82 | 34,690 | 9994 | 1595 | 8399 | 84 | 5, ~185 (896 max rpt) |
No obvious interruption |