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Table 2 Benchmark mutation coverage.

From: Identifying Mendelian disease genes with the Variant Effect Scoring Tool

 

Benchmark

Method

Disease

Neutral

VEST

100%

100%

PolyPhen2

89%

88%

SIFT4.0

57%

94%

All 3

51%

84%

  1. Percentage of the benchmark test set mutations that could be scored by each of the methods compared.
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BMC Genomics

ISSN: 1471-2164

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