Table 1

Summary of the filtering to narrow down the candidates for the causal variant

Criteria for the filtering

Number of remaining variants


Coding variants

19, 215

Not in dbSNP130

2, 015

Not in eight HapMap exomes [12]

1, 833

Not in in-house data of a healthy Japanese individual

1, 336

Functional (missense, nonsense, frameshift and splice site)

592

In run-of-homozygosity regions

35 (in 33 genes)


The filtering was performed using the listed criteria in descending order.

Takata et al. Genome Biology 2011 12:R92   doi:10.1186/gb-2011-12-9-r92

Open Data