PGX Synthetic Showcase Analytics

Synthetic data only. This run is for product demonstration and does not represent clinical validation.

128

Samples

152

MegaVCF rows

Genes

CNV rows

112

Nominal hits

variant_significance_manhattan — Variant Significance Manhattan

variant_significance_qq — Variant Significance Qq

variant_significance_pvalue_histogram — Variant Significance Pvalue Histogram

variant_significance_forest — Variant Significance Forest

variant_significance_gene_signal — Variant Significance Gene Signal

metabolizer_activity_heatmap — Metabolizer Activity Heatmap

action_required_interactions — Action Required Interactions

ml_responder_precision_recall — Ml Responder Precision Recall

ml_feature_importance — Ml Feature Importance

variant_function_scores — Variant Function Scores

review_triage_queue — Review Triage Queue

cnv_pgx_gene_events — Cnv Pgx Gene Events

Top synthetic PGx findings

Gene	Variant	Sample	Impact	ACMG	Medication terms	p-value
CYP2D6	rs3892097	CARDIO_019	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2D6	rs3892097	CONTROL_015	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2D6	rs3892097	CONTROL_023	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2D6	rs3892097	ONCO_001	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2D6	rs3892097	ONCO_011	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2D6	rs3892097	ONCO_018	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2D6	rs3892097	TRANSPLANT_012	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2D6	rs3892097	TRANSPLANT_014	HIGH	Pathogenic	codeine; tramadol; tamoxifen; atomoxetine; metoprolol	7e-06
CYP2C19	rs4244285	CARDIO_002	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	CARDIO_003	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	CARDIO_008	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	CONTROL_003	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	CONTROL_011	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	CONTROL_013	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	CONTROL_032	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	ONCO_001	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
CYP2C19	rs4244285	ONCO_004	MODERATE	Likely pathogenic	clopidogrel; omeprazole; escitalopram; voriconazole	1.3e-05
DPYD	rs3918290	CARDIO_002	HIGH	Pathogenic	fluorouracil; capecitabine; tegafur	3.1e-05
DPYD	rs3918290	CONTROL_021	HIGH	Pathogenic	fluorouracil; capecitabine; tegafur	3.1e-05
DPYD	rs3918290	TRANSPLANT_019	HIGH	Pathogenic	fluorouracil; capecitabine; tegafur	3.1e-05
SLCO1B1	rs4149056	CARDIO_022	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	CONTROL_001	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	CONTROL_010	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	CONTROL_011	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	CONTROL_015	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	ONCO_018	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	ONCO_022	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	PAIN_023	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	TRANSPLANT_002	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011
SLCO1B1	rs4149056	TRANSPLANT_005	MODERATE	Likely pathogenic	simvastatin; atorvastatin; rosuvastatin	0.00011