Table 1. Concordance values for samples passing both quality check values.
Samples passing QC | Whole exome | Whole genome | ||
Nr. of alleles typed | Concordance% | Nr. of alleles typed | Concordance% | |
HLA-A | 340 | 92.3 | 52 | 78.9 |
HLA-B | 360 | 96.7 | 60 | 85.0 |
HLA-C | 322 | 92.6 | 24 | 95.8 |
All the genes | 1022 | 93.9 | 136 | 84.6 |
Quality check (QC) was applied in these subsequent steps: i) only those samples were processed where the length of the read was longer than 76 bps for both ends ii) after alignment the percentage of the covered region () was calculated for exons 2 and 3. If any of these exons were covered by reads only less than 70% of the extent of the exon, the sample failed QC and was discarded. iii) finally, using this formerly calculated
value, if the average
for exons 2 and 3 was less than 80%, the sample was discarded. Average coverage depth was not considered since
was a better indicator of correct concordance.