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Table 3 Identification of the candidate genes for two brothers by exome sequencing

From: Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype

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Case 1

Case 2

NS/SS/I

2983

2981

Not in dbSNP129, 1000 Genome Project, eight HapMap exomes, and YH genome

51

33

Comparing to the mother

14

8

Shared by two cases

3

  1. Each cell indicates the number of genes with nonsynonymous (NS) variants, splice acceptor and donor site mutations (SS) and coding indels (I). Rows show the effect of excluding from consideration variants found in dbSNP129, 1000 Genome Project, the eight HapMap exomes, and the YH genome. Columns show the effect of requiring that NS/SS/Indel variants be observed in each case.