Table 1.
Exon coverage and depth using whole-exome sequencing for the four family members
| Exome capture statistics | Father | Mother | Son-case | Son-control |
|---|---|---|---|---|
| Target region (bp) | 44,234,141 | 44,131,461 | 44,234,141 | 44,234,141 |
| Raw reads | 132,038,330 | 143,078,102 | 123,878,094 | 156,397,584 |
| Raw data yield (Mb) | 11,883 | 12,877 | 11,149 | 14,076 |
| Mean depth of target region (×) | 126.08 | 136.35 | 115.18 | 145.29 |
| Coverage of target region (%) | 99.40 | 99.41 | 99.41 | 99.05 |
| CCDS exons (read coverage) | 265,204 | 264,392 | 265,247 | 264,808 |
| CCDS genes (read coverage) | 18,386 | 18,335 | 18,386 | 18,381 |
Note: CCDS, Consensus Coding Sequence Dataset.