Table 1 Variant numbers from whole-exome data following filtering cascade

From: The use of whole-exome sequencing to disentangle complex phenotypes

Filter

Variants

Genes

Start

357 699

17 704

I: Confidence

114 411

15 605

II: Common variants

20 104

5773

III: Predicted deleterious

880

558

IV: Genetic analysis

129

58

V: Biological context (peripheral neuropathy)

1

1

VI: Biological context (bronchiectasiaa)

3

3

  1. Filtering cascade as implemented in Ingenuity Variant Analysis, detailed descriptions of the filtering parameters are given in Supplementary Information.
  2. a10 variants in three genes were subsequently removed due to their location within segmental duplications.
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