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.
Excluding variants having alternative allele frequencies >0.01 in any one of the populations in dbSNP and 1000 genomes.
Excluding variants having alternative allele frequencies >0.01 in 170 other unrelated in-house exomes.
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.