Table 1.
Summary of the exome sequencing data
| Exome platform | Agilent SureSelect Human All Exon Version 4 | Roche NimbleGen EZ Exome SeqCap Version 2 | Roche NimbleGen EZ Exome SeqCap Version 1 |
|---|---|---|---|
| No of paired samples | 1 × 2 | 11 × 2 | 6 × 2 |
| Target size | 51Mbp | 36Mbp | 26Mbp |
| Sequencing platform | Illumina HiSeq | Illumina GAIIx | Illumina GAIIx |
| Read length | 101 bp | 100 bp | 79 bp, 100 bp and 101 bp |
| Avg. mapped reads (BWA)* | 102,082,760 | 86,607,431 | 77,433,963 |
| Avg. on target reads* | 95,930,467 | 78,038,985 | 70,758,116 |
| Avg. bases mapped to target regions* | 9.7Gbp | 7.8Gbp | 6.8Gbp |
| Average coverage per targeted base | 189.28 | 216.91 | 204.68 |
*Per sample.