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From variant to insight — AI-powered clinical interpretation

Comprehensive variant analysis with ACMG/AMP guidelines, population databases, and AI-powered pathogenicity prediction for clinical decision support.

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Clinical variant matrixACMG / AMP · 6 of 1,284
Gene / variantClassificationPath. score
BRCA1
c.5266dupC · p.Gln1756fs
Pathogenic
MLH1
c.1852_1854del · p.Lys618del
Pathogenic
TP53
c.743G>A · p.Arg248Gln
Likely path.
CFTR
c.1521_1523del · p.Phe508del
Likely path.
APC
c.3920T>A · p.Ile1307Lys
VUS
MUTYH
c.536A>G · p.Tyr179Cys
Benign
Pathogenic Likely pathogenic VUS / Benign
Pathogenicity predictionAI ensemble
AlphaM
REVEL
CADD
SpliceAI
PrimateAI

Floxgen AI fuses multiple predictors into a single calibrated pathogenicity score, weighted by gene-level performance.

Decision support, not a black box

Floxgen interprets every variant against curated population databases, literature and functional evidence — then shows its reasoning. Clinicians see exactly which criteria fired, with full audit trails for sign-out.

Population context

gnomAD, 1000G and your own cohort allele frequencies, side by side.

Audit trail

Every classification is versioned, timestamped and reviewer-attributed.

Guideline-aligned

ACMG/AMP 2015 + ClinGen specifications, kept current.

Re-classification

Variants are re-evaluated as evidence evolves; reviewers are alerted.

ACMG / AMP criteria

Each variant is scored against the full criteria set; triggered codes combine into a final classification.

PVS1
null variant
PS3
functional
PM2
rare in pop.
PP3
in-silico
BA1
high AF
BP4
benign pred.

Pathogenicity AI

A calibrated ensemble of state-of-the-art predictors — AlphaMissense, REVEL, CADD, SpliceAI — fused into one score per variant, benchmarked per gene against ClinVar-known truth sets.

Evidence at a glance

Population frequency, conservation, splice impact and literature — surfaced together so the call is explainable in seconds.

Cohort vs. reference allele frequency%
BRCA1
MLH1
TP53
CFTR
APC
MUTYH