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Table 4 Whole-exome variable threshold results

From: Mutational load analysis of unrelated individuals

   

Minor allele load

Procedure

MAF threshold

Number of SNPs

Odds ratio

Observed p-value

Empirical p-value

All SNPs

0.0065

17,207

1.350

7.51 × 10−4

0.002

Nonsynonymous

0.023

11,647

1.401

3.45 × 10−4

0.001

Synonymous

0.405

9,951

1.321

1.49 × 10−3

0.004

BLOSUM weighting

0.144

22,759

1.355

8.10 × 10−4

0.002

  1. The variable threshold procedure examines all MAF thresholds to find the most significant threshold. Empirical p-values are derived from 1,000 permutations of affection status.
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BMC Proceedings

ISSN: 1753-6561

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