Table 1.
Recommended filtering parameters.
Description | Filter |
---|---|
High genotype quality for all samples in a family | GQ ≥ 20 |
Allele balance between 0.2 and 0.8 for heterozygous samples | 0.2 ≤ AB ≤ 0.8 |
Allele balance <0.02 homozygous samples | AB < 0.02 |
Depth of at least 10 for all samples in a family in whole-genome data | DP ≥ 10 (whole-genome only) |
Low allele-frequency (or absent) in population allele-frequency databases | population_AF < 0.01 (recessive inheritance modes) |
population_AF < 0.001 (dominant inheritance modes) |