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Table 2 Number of genes per benchmarked sample

From: Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

 

1000 Genomes Project exomes

In-house exomes

 

AD

AR

AD

AR

Before filtering

10542 ± 783

10631 ± 802

19235 ± 916

19712 ± 976

Exomiser filtered

388 ± 110

38 ± 11

973 ± 104

557 ± 74

PhenIX filtered

388 ± 110

38 ± 11

973 ± 104

557 ± 74

Exomiser filtered for eXtasy analysis

388 ± 110

38 ± 11

973 ± 104

557 ± 74

Phen-Gen filtered

100 ± 34

5 ± 4

665 ± −86

331 ± 70

Annovar filtered for Phevor analysis

88 ± 36

2 ± 1

372 ± 61

52 ± 17

  1. Abbreviations: AD autosomal dominant, AR autosomal recessive