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. 2019 Dec 24;19:683–695. doi: 10.1016/j.omtn.2019.12.015

Table 1.

Number of Variants per Sample

S23 Mutant S23 Repaired All Variants Filtered Variants Filtered SNV Filtered Del Filtered Insert
0/0 0/1 66,758 46,002 36,147 4,681 5,174
0/1 0/0 67,563 46,414 36,637 4,684 5,093
0/0 1/1 8,579 644 105 307 232
1/1 0/0 8,414 729 92 345 292
0/1 1/1 23,814 6,322 4,490 890 942
1/1 0/1 22,472 5,675 4,046 769 860
0/1 0/1 1,074,296 971,609 798,079 92,812 80,718
1/1 1/1 1,036,972 549,872 441,444 35,296 73,132
Total 2,308,868 1,627,267 1,321,040 139,784 166,443

The genotype conventions were followed: “0/0” refers to homozygous reference position (no variant), “0/1” heterozygous, and “1/1” homozygous alternative. “Filtered” refers to the minimum coverage of 10 in both samples and a minimum of three for the alternative alleles, which reduces the number of variants by 30% but ensures that both samples have a good coverage. We can observe that the new variants in sample S23 repaired (0/0 0/1 or 0/0 1/1) and the new variants in sample S23 mutant (0/1 0/0 or 1/1 0/0) are very similar. Thus, we cannot see a big increase or decrease in the overall number of variants between these two samples. SNV, single nucleotide variant; Del, deletions; Insert, insertions.