PGX Interactive Synthetic Showcase

Interactive Manhattan, cohort analytics, PGx medication evidence, ML/DL workbench, CNV ensemble, and triage outputs.

Synthetic data only. Designed for demos with higher-ups. It shows product capabilities, not clinical validation.

Interactive Manhattan + Variant Detail

Filter by gene, impact, or search term. Click any point to inspect PGx, ACMG, caller, and medication evidence.

QQ, P-value, and Gene Signal

Medication Evidence Explorer

Drug terms are aggregated directly from the synthetic MegaVCF evidence fields. Click a medication to see how PGx findings could disrupt dosing, activation, toxicity, or efficacy.

Top PGx Rows

ML/DL Workbench

Large synthetic cohort built to show leakage-free responder modeling, VAE embeddings, DL variant-function scores, and analyst triage.

VAE Sample Embedding

What it is: a neural-network latent-space view of the cohort. How it is calculated: genotype features are compressed into two synthetic latent coordinates. Why it matters: clusters can reveal population structure, treatment cohorts, batch effects, or outlier samples worth reviewing.

Feature Importance + DL Triage

Feature Importance: ranks the PGx variants, CNVs, and QC signals that contribute most to the synthetic responder model. It is useful for sanity-checking whether the model is learning biologically plausible drivers.
DL Review Triage: prioritizes variants for analyst review using annotation severity, PGx relevance, model score, and evidence density. It is interesting because it turns a large variant table into an ordered review queue.

5-Caller CNV Ensemble

Synthetic CNV calls show caller agreement, PGx gene impact, and validation flags.

Searchable MegaVCF Preview