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. 2016 May 26;10(Suppl 1):12. doi: 10.1186/s40246-016-0063-5

Table 2 (abstract P41).

Example of summary statistics comparing Atlas genotype calls with differing allele fraction thresholds with GATK calls.

Genotype GATK ATLAS (ORIGINALS) ATLAS
DP>=10
0.25<0/1>0.75
ATLAS
DP>=10
0.1<0/1>0.9
ATLAS
DP>=10
0.1<0/1>0.75
0/0 1,793,394,356 1,788,668,240 1,778,668,240 1,778,668,240 1,778,668,240
0/1 138,744,203 69,153,666 112,165,710 147,763,797 124,056,267
1/1 79,407,733 60,398,312 73,417,546 49,710,016 73,423,295
Het / hom 1.75 1.14 1.53 2.97 1.69
Total 2,011,546,292 1,908,220,218 1,964,251,496 1,976,142,053 1,976,147,802
Concordant Genotypes GATK + ATLAS (ORIGINALS) GATK + ATLAS (0.25<0/1>0.75) GATK + ATLAS (0.1<0/1>0.9) GATK + ATLAS (0.1<0/1>0.75)
0/0 914,737,638 1,021,734,445 1,050,682,661 1,049,337,470
0/1 39,133,931 72,422,398 74,278,418 75,570,661
1/1 17,017,045 45,077,505 33,993,884 45,368,697
Het/hom 2.30 1.61 2.19 1.67
Total 970,888,614 1,139,234,348 1,158,954,963 1,170,276,828