Table 1 Results of exome sequencing of 2 affected sisters and their unaffected parents
Parameter | Elder sister | Younger sister | Father | Mother |
|---|---|---|---|---|
Mapped reads | 42766143 | 24025346 | 37859563 | 40082904 |
On-target | 95.42% | 95.48% | 96.65% | 96.62% |
Mean coverage | 120.5X | 68.36X | 111.5X | 117X |
20X coverage | 92.97% | 85.20% | 91.95% | 93.72% |
Uniformity | 90.95% | 91.24% | 90.68% | 92.24% |
No. of total variants | 53753 | 52397 | 52433 | 53316 |
No. of total variants with quality score ≥ 30 | 51907 | 49251 | 51016 | 51941 |
No. of coding variants | 21276 | 20200 | 20839 | 21059 |
No. of nonsynonymous variants | 10703 | 10156 | 10454 | 10563 |
After removal of polymorphisms | 796 | 797 | 731 | 688 |
Shared Candidate PDS mutations | ||||
 Homozygous | 1 | 1 | 0 | 0 |
 Compound heterozygous | 2 | 2 | 0 | 0 |
 Heterozygous inherited from father | 132 | 132 | 132 | NA |
 Heterozygous inherited from mother | 121 | 121 | NA | 132 |
Candidate PDS mutations in elder sister only | ||||
 Homozygous | 0 | NA | NA | NA |
 Compound heterozygous | 5 | NA | NA | NA |
 Heterozygous inherited from father | 73 | NA | 73 | NA |
 Heterozygous inherited from mother | 83 | NA | NA | 83 |
Candidate PDS mutations in younger sister only | ||||
 Homozygous | NA | 0 | 0 | 0 |
 Compound heterozygous | NA | 3 | 0 | 0 |
 Heterozygous inherited from father | NA | 80 | 80 | NA |
 Heterozygous inherited from mother | NA | 73 | NA | 73 |