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. 2020 Aug 18;2(3):lqaa060. doi: 10.1093/nargab/lqaa060

Table 1.

Six informative genotype combinations to estimate heterogeneity/contamination ratioa

Combination 1 2 3 4 5 6
S1 genotype AA AA AA AT AT AT
S2 genotype TT AT TG GG AG GC
S2 ratio (SNP heterogeneity ratio) T/(A + T)b 2T/(A + T)b (T + G)/(A + T + G) G/(A + T + G)c 2G/(A + T + G) (G + C)/(A + T + G + C)
Nucleotide frequency pattern Large A, small T Large A, small T Large A, small T and G Large A and T, small G Large A and T, small G Large A and T, small G and C

aS1 is the major component and S2 is the minor/contaminating component in the mixed sample. Each combination uses specific nucleotides to represent a class of combinations; for example, the first combination denotes that both are homozygous genotypes with different nucleotides. In the formulas for calculating S2 ratio, a nucleotide denotes its count (total number of reads) in NGS sequencing data.

bCombinations 1 and 2 cannot be distinguished from observed NGS data, so 1.5T/(A + T) is used for both.

cCombinations 4 and 5 cannot be distinguished from observed NGS data, so 1.5G/(A + T + G) is used for both.