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Statistics of Genome Sequencing in 2 DYT4 Patients
| L-3492 | L-3957 | |
|---|---|---|
| Mean coverage depth | 48.2 | 48 |
| Proportion of genome covered | 89.6% | 90.0% |
| Total sites called reference-mismatching | 4,589,260 | 4,532,122 |
| Novel single nucleotide substitutions | 433,888 | 427,112 |
| Synonymous | 9,410 | 9,061 |
| Missense | 8,192 | 7,772 |
| Nonsense | 53 | 63 |
| Read-through | 16 | 16 |
| Splice region (≤5b from splice site) | 443 | 536 |
| Insertions/deletions (Indel) | 999,101 | 1,709,685 |
