Table 2. Comparison of the PHASE.big, PHASE.small and SNPHAP programs using phase known data sets.
Gene name | ApoE | LPL | |||||
Target region (kb) | 5.5 | 9.7 | |||||
No. of subjects | 96 | 71 | |||||
No. of SNPs | 22 | 69 | |||||
No. of heterozygous genotypes | 283 | 1154 | |||||
Average no. of heterozygous genotypes per subject | 3 | 16 | |||||
Nucleotide diversitya | 0.0005 ± 0.0003 | 0.002 ± 0.001 | |||||
Algorithm | PHASE.big | PHASE.small | SNPHAP | PHASE.big | PHASE.small | SNPHAP | |
Run time | Pre-filterb | 2 h | 6 h | 1 min | 3 h | 9 days | 90 s |
Post-filterc | 2 h | 6 h | 1 min | 3 h | 7 days | 1 min | |
Accuracy of full haplotyped | Pre-filter | 74 (77%) | 74 (77%) | 79 (82%) | 37 (52%) | 38 (53%) | 30 (42%) |
Post-filter | 73 (76%) | 73 (76%) | 77 (80%) | 32 (45%) | 38 (53%) | 27 (39%) | |
Accuracy of heterozygous genotypese | Pre-filter | 253 (91%) | 253 (91%) | 258 (93%) | 1051 (91%) | 1058 (92%) | 1033 (89%) |
Post-filter | 252 (91%) | 252 (91%) | 256 (92%) | 1035 (90%) | 1053 (91%) | 1022 (88%) |
bPre-filter, haplotypes predicted after excluding SNPs with no experimentally determined haplotype phase.
cPost-filter, all SNPs were included in haplotype prediction, but SNPs with no experimentally determined haplotype phase were excluded in the comparison analysis.
dThe number of subjects (or percentage of donors) whose complete haplotypes are correctly constructed.
eThe number of heterozygous genotypes (or percentage of heterozygous genotypes) with correct haplotype phase assignment.