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Proband genome sequencing metrics
| Metric | Value |
|---|---|
| Read length | 2 × 100 nt |
| Mean coverage | 52-fold |
| Nucleotide variants identified | 4,829,581 |
| Variants with quality scores >40 | 98.2% |
| Coding nucleotide variants identified and | 26,202 |
| Homozygous: heterozygous ratio of coding nucleotide variants | 0.59 |
| Transition to transversion ratio of coding nucleotide variants | 2.88 |
