Real
|
Called (NGS)
|
Imputed
|
---|
|
RR
|
RA
|
AA
|
RR
|
RA
|
AA
|
---|
RR | 1 − λ/5 | λ/5 | 0 | 1 − α | α/2 | α/2 |
RA | λ | 1 − 2λ | λ | α/2 | 1 − α | α/2 |
AA | 0 | λ/5 | 1 − λ/5 | α/2 | α/2 | 1 − α |
- R: reference allele; A: alternative allele; λ: base NGS genotyping error rate; α: imputation error rate. The Table shows the probability of a true genotype being called or imputed for each of the three possible genotypes; for instance, under this model, a true heterozygous genotype RA has a probability λ of being called as homozygous RR or AA and 2λ of being wrongly called.