Table 2.
Summary of Estimated Contamination Levels Ratio of the Numbers of Heterozygous to Nonreference Allele Homozygous Genotypes, and Genotype Discordance with Array Data for 299 Samples from Type 2 Diabetes Study Using Sequence Data Only
Array Genotypes? | Measure |
(sequence only) |
|||
---|---|---|---|---|---|
<1% | 1%–2% | 2%–5% | ≥5% | ||
Yes (n = 227) | Number of samples | 208 | 13 | 1 | 5 |
− Before August 2010 | 81 | 13 | 1 | 5 | |
− After August 2010 | 127 | 0 | 0 | 0 | |
RR discordancea | 0.0021 | 0.0030 | 0.0071 | 0.0492 | |
RA discordanceb | 0.0154 | 0.0157 | 0.0172 | 0.0300 | |
AA discordancec | 0.0085 | 0.0143 | 0.0377 | 0.176 | |
HET/HOM ratiod | 1.92 | 1.84 | 2.16 | 2.66 | |
No (n = 72) | Number of samples | 46 | 8 | 7 | 11 |
− Before August 2010 | 24 | 8 | 7 | 11 | |
− After August 2010 | 22 | 0 | 0 | 0 | |
HET/HOM ratiod | 1.87 | 1.88 | 1.88 | 2.64 |
RR discordance: Genotype discordance when array-based genotype is homozygous reference
RA discordance: Genotype discordance when array-based genotype is heterozygous
AA discordance: Genotype discordance when array-based genotype in homozygous nonreference
HET/HOM ratio: Ratio of number of heterozygous genotypes to homozygous nonreference genotypes