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. 2012 Nov 2;91(5):839–848. doi: 10.1016/j.ajhg.2012.09.004

Table 2.

Summary of Estimated Contamination Levels αˆ 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 αˆ(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
a

RR discordance: Genotype discordance when array-based genotype is homozygous reference

b

RA discordance: Genotype discordance when array-based genotype is heterozygous

c

AA discordance: Genotype discordance when array-based genotype in homozygous nonreference

d

HET/HOM ratio: Ratio of number of heterozygous genotypes to homozygous nonreference genotypes