NGS sample quality

The overall sample quality indicator provides a quick assessment of sequencing reliability for each sample.

Sample quality is evaluated using the following metrics:

• Average depth of coverage Mean coverage across the target regions

• % bases covered >20x Percentage of bases in the target regions covered at a depth greater than 20×, indicating reliable coverage

• Error rate Sequencing error rate. Reflects general sequencing accuracy

• % mapped reads Proportion of reads successfully mapped to the reference genome

• Contamination check Detects mixed or low-quality samples that may affect interpretation

These metrics give an overall confidence level for whether the sequencing data can support accurate variant interpretation.