NGS Data Interpretation: A Practical Guide

Next-Generation Sequencing has become central to modern genomics. Understanding how to interpret NGS data is crucial.

Understanding Key Metrics

**Depth of Coverage** - How many reads map to each position. Higher is generally better.

**Quality Scores** - Phred quality scores indicate base calling accuracy.

**Allele Frequency** - The proportion of reads supporting each variant.

Annotate variants using databases like:

ClinVar - Clinical significance

gnomAD - Population frequencies

ACMG guidelines - Classification standards

Verify coverage meets minimum thresholds

Check for contamination

Validate amplicon coverage uniformity

Cross-check against known controls

Focus on actionable variants. Include:

Variant classification (pathogenic, likely pathogenic, VUS, etc.)

Population frequency data

Clinical significance

Recommended follow-up testing when needed

Remember: Always have results reviewed by qualified professionals before reporting.