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Table 1 Correctly detected SVs for simulated data at 20 × coverage under varying levels of heterogeneity

From: SHEAR: sample heterogeneity estimation and assembly by reference

 

Deletions

Tandem duplications

Variant percent

SHEAR

IMR/DENOM

SHEAR

IMR/DENOM

20%

6 / 30

0 / 30

3 / 30

0 / 30

40%

20 / 30

0 / 30

14 / 30

0 / 30

60%

26 / 30

0 / 30

24 / 30

0 / 30

80%

29 / 30

1 / 30

26 / 30

0 / 30

90%

29 / 30

1 / 30

24 / 30

0 / 30

100%

28 / 30

27 / 30

26 / 30

0 / 30

  1. All simulations are done on a 70,000 bp portion of chromosome 15 after introducing deletions and tandem duplications of sizes 150 bp, 1000 bp, and 30,000 bp, each over 10 different iterations, for a total of 30 different deletion events, and 30 different tandem duplication events.
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BMC Genomics

ISSN: 1471-2164

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