Table 1.
Chromosome 1 | Chromosome 29 | |||||||
---|---|---|---|---|---|---|---|---|
HOL20 | MIX80 | HOL80 | MIX140 | HOL20 | MIX80 | HOL80 | MIX140 | |
Sequence (n) | 1,912,451 | 1,912,451 | 1,91,2451 | 1,912,451 | 670,773 | 670,773 | 670,773 | 670,773 |
777 K chip (n) | 41,868 | 41,868 | 41,868 | 41,868 | 13,556 | 13,556 | 13,556 | 13,556 |
No variation in reference set (n)1 | 1,178,683 | 710,480 | 894,633 | 616,808 | 385,137 | 221,137 | 283,516 | 187,904 |
No variation observed in validation set (n)1 | −2 | 468,203 | 284,050 | 561,875 | −2 | 164,000 | 101,621 | 197,233 |
No variation imputed in validation set (n)1 | 19,484 | 1,005 | 1,077 | 649 | 19,284 | 4,139 | 4,267 | 3,681 |
Obtained overall imputation accuracy (n) | 672,416 | 690,895 | 690,823 | 691,251 | 252,796 | 267,941 | 267,813 | 268,399 |
average overall imputation accuracy (r) | 0.70 | 0.83 | 0.88 | 0.89 | 0.59 | 0.74 | 0.80 | 0.82 |
standard deviation of r | 0.32 | 0.27 | 0.25 | 0.24 | 0.37 | 0.32 | 0.29 | 0.28 |
1No variation was present in the genotype dosages of at least one of the 5 corresponding cross-validation sets, therefore the imputation accuracy (correlation) could not be computed.
2In scenario HOL20 the reference sets were the same as the validation sets, therefore all variants without variation in at least one cross-validation reference set are the same as the variants without variation in observed genotypes of the validation sets.