Table 1.
MAF distribution of resequencing discovered SNPs and indels with regard to dbSNP, 1000 Genome, and HapMap inclusion
SNP | Indel | Total | |||||||
---|---|---|---|---|---|---|---|---|---|
Content | count | MAF |
count | MAF |
count | MAF |
|||
average | (min-max), median | average | (min-max), median | average | (min-max), median | ||||
dbSNPa | 47 | 0.040 | (0.006-0.449), 0.013 | 5 | 0.167 | (0.029-0.272), 0.217 | 52 | 0.052 | (0.006-0.449), 0.014 |
1000 Genomeb | 179 | 0.167 | (0.007-0.481), 0.103 | 18 | 0.222 | (0.019-0.482), 0.130 | 197 | 0.172 | (0.007-0.482), 0.103 |
HapMapc | 97 | 0.258 | (0.007-0.473), 0.280 | 0 | - | - | 97 | 0.258 | (0.007-0.473), 0.280 |
Noveld | 103 | 0.011 | (0.006-0.051), 0.008 | 20 | 0.076 | (0.017-0.278), 0.031 | 123 | 0.021 | (0.006-0.278), 0.008 |
| |||||||||
Totale | 426 | 43 | 469 | 0.137 | (0.006-0.482), 0.054 |
dbSNP (b132) reported, exclusive of 1000 Genome or HapMap reported ones
1000 Genome CEU (pilot 1 low-coverage data, 10-2010 release) reported, exclusive of HapMap CEU (release 28) reported ones
HapMap CEU reported SNPs
Novel polymorphisms previously not reported by dbSNP or 1000 Genome CEU data
Polymorphism counts and MAF estimation was performed after exclusion of 90 variants with call rate ≤ 40% in 80 (78 PLCO + 2 CEU founders) unrelated Europeans