Table 1.
Analysis of 698264 sequence variants detected in ES data obtained from 29 UDP families
| Data set | Number of variants | Number of genes |
|---|---|---|
| Variants arising in highly polymorphic genes | ||
| ≥10 variants in all families | N/A | 17 |
| ≥10 variants in ≥3 families | N/A | 166 |
| Variants arising from misalignment | ||
| Heterozygous in every exome | 392 | 45 |
| Excess heterozygosity | 23,389 | 2,576 |
| Variants arising from biases in the Hg18 human genome reference sequence | ||
| Homozygous non-Hg18 human genome reference sequence in every exome | 1,009 | 707 |