Table 4.
Genotype concordance results per sample and platform vs. SNP microarray data
| Proton vs. SNP chip | Illumina vs. SNP chip | |
|---|---|---|
| NA12889 | 0.9920 | 0.9928 |
| NA12890 | 0.9923 | 0.9931 |
| # Loci tested | 21,078 | 32,382 |
| # Concordant pairs | 34,255 | 53,313 |
| # Discordant heterozygote → heterozygote | 6 | 4 |
| # Discordant heterozygote → homozygote | 189 | 27 |
| # Discordant homozygote → heterozygote | 46 | 304 |
| # Discordant homozygote → homozygote | 29 | 44 |
Direction of discordances is always shown as SNP microarray genotype → sequencing platform