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. 2014 Sep 18;59(11):599–607. doi: 10.1038/jhg.2014.78

Table 3. The number of high-quality variants after each step of filtering.

  III-13
III-4
  SNVs Indels SNV Indels
All high-quality variants 1492 220 35 728 2416
After filtering against public databasesa 50 131 1172 1129
After in-house filtering against in-house exome databaseb 36 22 719 58
After functional effects filteringc 11 1 196 14
Variants disrupting known nonsyndromic hearing loss genes 4 0 4 0
Genes harboring homozygous variants or >=2 heterozygous variants 1 2
Recessive hearing loss genes harboring homozygous variants or >=2 heterozygotes 1 1

Abbreviations: indels, insertions-deletions; SNV, single-nucleotide variants.

a

Excluding variants having alternative allele frequencies >0.01 in any one of the populations in dbSNP and 1000 genomes.

b

Excluding variants having alternative allele frequencies >0.01 in 170 other unrelated in-house exomes.

c

Keeping SNVs that are evolutionarily conserved and cause missense, nonsense changes or potentially disrupt splice sites; and keeping indels that result in inframe or frameshift alternations.