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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