Table 1 Sequencing and variants data
Pedigrees | HL1 | HL2 | HL3 | HL4 | HL5 |
|---|---|---|---|---|---|
Samples applied WES | III1 | IV1 | V1 | IV1 | III5 |
Sequencing depth (X) | 136.98 | 136.47 | 142.36 | 143.74 | 170.79 |
Coverage (%) | 99.75 | 99.88 | 99.9 | 99.83 | 99.9 |
10X coverage (%) | 98.11 | 98.21 | 98.21 | 97.84 | 98.65 |
Exon variants with MAF < 0.005 | 23 | 22 | 32 | 15 | 19 |
Variants followed recessive model | 1 | 4 | 6 | 3 | 1 |
Variants applied Sanger validation | 1 | 1 | 3 | 0 | 1 |