Table 1.
Comparison of Sequence-Based and SNP-Based Coordinates for AMD Samples
Range of Off-Target Coverage | Number of Samples | POPRES Reference Panel | Mean Off-Target Coverage | Average Number of Covered Loci |
Procrustes Similarity to SNP-Based Coordinates |
|
---|---|---|---|---|---|---|
K′ = 2 | K′ = 20 | |||||
0.04–0.17a | 225 | original | 0.14 | 32,349 | 0.8680 | 0.8878 |
imputed | 0.21 | 583,105 | 0.7165 | 0.9579 | ||
0.17–0.21a | 224 | original | 0.19 | 43,723 | 0.9326 | 0.9313 |
imputed | 0.29 | 764,267 | 0.7111 | 0.9665 | ||
0.21–0.26a | 224 | original | 0.24 | 52,856 | 0.9147 | 0.9248 |
imputed | 0.36 | 892,775 | 0.7115 | 0.9576 | ||
0.26–0.71 | 224 | original | 0.33 | 68,994 | 0.9459 | 0.9505 |
imputed | 0.48 | 1,114,473 | 0.7705 | 0.9666 | ||
Total | 897 | original | 0.22 | 49,461 | 0.9171 | 0.9244 |
imputed | 0.33 | 838,370 | 0.7230 | 0.9628 |
The 897 AMD samples were evenly split into four bins according to their mean off-target sequencing depth across 318,682 loci in the original POPRES reference panel. For each bin, we estimated their ancestry coordinates with both original and imputed POPRES reference panels at K′ = 2 and 20, respectively. We set K = 2 in all the analyses. Note that setting K′ = 2 is equivalent to LASER 1.0. We compared each set of sequence-based coordinates to those based on 47,235 genome-wide SNPs genotyped in both the AMD GWAS data and the original POPRES data (K = K′ = 2).
Ranges are inclusive of the low number but not the high number.