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Table 3 Analysis with simulated variants in GLI3 and CAV2

From: BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge

Gene

MAF Thres

Location

Size

Loci

# Bins

# Sig. Bins

Overall Rank

Unadj. P-val*

Adj. P-val

GLI3

0.02

7:42000547-42276618

276kb

262

1539

0

1377

0.9828

1

GLI3

0.05

  

431

1692

0

1288

0.7723

1

GLI3

0.10

  

602

1730

0

1273

0.7404

1

CAV2

0.02

7:116139654-116148595

109kb

9

1612

1

1

1.731e-17

2.791e-14

CAV2

0.05

  

11

1701

1

1

2.338e-14

3.976e-1

CAV2

0.10

  

20

1735

0

3

0.0005869

1

  1. A simulated variant was added to two genes, GLI3 and CAV2. The genes were used to test signal mitigation in the presence of a large versus small number of variants in the bin. The adjusted p-values were calculated using a Bonferroni correction to account for the total number of bins generated.
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BMC Medical Genomics

ISSN: 1755-8794

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