Decoder
Whole exome / genome tertiary analysis

Exome VCF to clinical interpretation

Upload a VCF with or without clinical history. Decoder returns ACMG/AMP classifications, carrier status and ACMG secondary findings; add a phenotype to rank diagnostic candidates.

New exome analysis
A VCF alone gives ACMG classifications, carrier status and secondary findings. Phenotype is optional and can be added later to re-rank candidates.
1

Variant file

Drop a VCF here or click to browse
.vcf or .vcf.gz · single-sample or multi-sample (first sample analysed)
+

Supporting files

Optional · CNV, coverage, trio

CNV uses ClinGen HI/TS dosage. Trio enables PS2/PM6 de novo. Coverage flags exons below 20× on reported genes.

2

Patient & phenotype

Optional

Real lab workflow: many cases start with VCF only. You still get pathogenic calls, carrier status and ACMG secondary findings. Phenotype improves diagnostic ranking when available.

No HPO terms yet. They drive gene ranking and the PP4 phenotype criterion. You can also run without a phenotype.

3

Reporting policy

Variant filtersfrequency ≤0.1% dominant / ≤1% recessive · depth ≥8 · GQ ≥20

ClinVar pathogenic / likely pathogenic variants are always kept regardless of frequency. Disease-specific BS1 thresholds (Whiffin maximum credible allele frequency) and ClinGen expert-panel cut-offs still apply during classification.

No VCF selected · VCF-only