Table 6.
NP Type | Called | Annotated, n | Annotated, % | Novel |
---|---|---|---|---|
Homozygous SNPs | 1,154,666 | 1,095,973 | 94.91 | 58,693 |
Heterozygous SNPs | 974,122 | 711,413 | 73.03 | 262,709 |
Block NP sites | 56,317 | 29,519 | 52.41 | 26,789 |
Total | 2,185,105 | 1,836,905 | 84.06 | 348,200 |
2.71 billion 50-bp reads were iteratively mapped to the unmasked Hg19. The lower annotation rate for heterozygous SNPs may be due to the difficulty of calling heterozygous bases at low or moderate coverage. Additionally, it is likely that SNPs which are not yet fixed in a population would be unannotated.