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Table 2 Similarity of the predicted endogenous mitochondrial genome sequence to the original Neanderthal reference sequence, at various rates of simulated contamination with present-day human DNA. An endogenous consensus call was performed using schmutzi on all fragments, and using PMDtools followed by htslib on the fragments labeled by PMDtools as endogenous. For comparison, we generated a simple consensus by running htslib on all sequenced fragments. While this approach works well at low amounts of contamination, it produces an incorrect consensus at higher levels of contamination when the presence of contaminating fragments is not accounted for using approaches like PMDtools and schmutzi. The number of indels are reported as either insertions or deletions in either the predicted consensus or the Neanderthal reference; hence, discrepancies in the final sum may occur

From: Schmutzi: estimation of contamination and endogenous mitochondrial consensus calling for ancient DNA

Contamination

Endogenous prediction

Endogenous prediction from

Mitochondrial consensus, called

rate

from schmutzi

PMDtools and htslib

using htslib on all fragments

 

Matches

Mismatches

Indels

Matches

Mismatches

Indels

Matches

Mismatches

Indels

1 %

16,565

0

0

16,561

2

6

16,561

3

5

5 %

16,565

0

0

16,561

2

6

16,561

3

5

10 %

16,565

0

0

16,561

2

6

16,561

3

5

15 %

16,565

0

0

16,560

3

6

16,553

11

5

20 %

16,565

0

0

16,560

3

6

16,488

76

5

25 %

16,565

0

0

16,558

5

6

16,374

190

5

30 %

16,564

1

0

16,558

5

6

16,371

193

5

35 %

16,564

1

0

16,556

7

6

16,371

193

5

40 %

16,564

1

0

16,555

8

6

16,371

193

5

45 %

16,564

1

0

16,553

10

6

16,371

193

5

50 %

16,563

2

0

16,553

10

6

16,371

193

5

55 %

16,564

1

0

16,554

9

6

16,370

194

5

60 %

16,563

2

0

16,551

12

6

16,368

196

5

65 %

16,563

1

1

16,551

12

6

16,361

203

5

70 %

16,562

1

2

16,548

15

6

16,358

206

5

75 %

16,563

1

1

16,546

17

6

16,355

209

5

80 %

16,561

2

2

16,545

18

6

16,355

209

5

85 %

16,563

1

1

16,544

19

6

16,355

209

5

90 %

16,561

3

1

16,539

24

6

16,355

209

5

95 %

16,550

15

7

16,532

31

6

16,355

209

5