Validation · WGS
Genome-in-a-Bottle (GIAB) v4.2.1 NA12878 truth set, chromosome 22 (49,964 PASS variants)
GIAB is the field's gold-standard variant truth set. A clinically-relevant interpretation pipeline should correctly rank the 5 known high-impact Tier-1 LoF variants on chr22 and recover all 5 expected gene-panel hits.
10/10 recovery metrics PASS. From 49,964 PASS variants the pipeline correctly recovered: 5 Tier-1 high-impact LoF variants (ARVCF / PARVB splice, EIF4ENIF1 / DDX17 / CELSR1 stop-gained), 122 Tier-2 rare missense, 2 Tier-3 ClinVar VUS in MYO18B, and 5 panel hits (4 BCR + 1 CHEK2). All 5 expected Tier-1 genes recovered.
WGS interpretation pipeline benchmark against the GIAB NA12878 chromosome 22 gold-standard truth set. The Tier 1–3 stratification, ClinVar look-up, and gene-panel intersection all recover the expected variants — 10/10 ground-truth metrics pass.
Same pipeline, fixed-fee, 7–10 business days. Email with your omics type and sample count.