Table 7. Minimum quality parameters suggested for mutation profiling in molecular diagnostic.
Quality parameter | Explanation |
---|---|
5% variant allele frequency of the variant call | Probability of validation with other sequencing technologies |
Forward and reverse strands show the variant | Variants detected only in one strand are high likely artifacts |
>500x coverage at the variant position | Enough sequencing reads for proper mutation calling |
PHRED-scaled quality of 100 | Low probability of incorrect variant call |