Coverage Benchmarks

Explanation of Metrics

Coverage statistics are calculated from sequencing reads aligned to the chm13v2.0/hs1 reference genome using BWA-MEM. A site is considered "callable" when it has at least four reads with high mapping confidence.

Why This Matters

This analysis provides independent verification of sequencing quality from direct-to-consumer WGS test providers. When a company advertises "30x coverage" or "90Gb of data," these metrics help you verify:

Data quantity: Does the delivered data match the advertised amount and read length?
Data quality: Are the reads accurately aligned to the reference genome?
Usable coverage: How much of the genome can reliably be analyzed for variants?

Technical Details

Analysis performed by DecodingUsTools Coverage Analysis with default settings.

Callable Bases: Sites with 4+ reads where each read has high mapping confidence.
Bases No Coverage: Sites with no aligned reads.
Low Quality Mapping: Sites that don't meet minimum quality thresholds.
Mean Depth: Average number of reads per base position. Note: For sex chromosomes (X and Y), male samples typically show approximately half the advertised sequencing depth (e.g., ~15x coverage on X/Y for a 30x WGS) due to having only one copy of these chromosomes. Female samples should show the full advertised depth on the X chromosome (~30x for a 30x WGS) since they have two X chromosomes.
95% Confidence Interval: Range (shown in parentheses as lower-upper) where the true population mean likely falls, displayed when multiple samples are available.