{ "trained_at": "2026-08-28T13:42:32.184957+00:00", "device": "cpu", "n_genes_total": 570, "n_train_labeled": 199, "n_test_labeled": 102, "temporal_split": { "train_total": 1504, "test_total": 1415, "leakage_prevented": 0, "no_leak_verified": true }, "baseline": { "auroc": 0.1190368014538846, "auprc": 0.547004870356739 }, "bgcn": { "auroc": 0.9213993639254885, "auprc": 0.9559666780818283 }, "calibration": { "slope": 1.039452672944247, "intercept": 0.14796603209583445, "ece": 0.10702049929429502 }, "dca": { "passes_gate": true, "positive_range": [ 0.01, 0.97 ] }, "lrp_fidelity": { "mean_fidelity": -0.08218878777653914, "median_fidelity": -0.013004715115331498, "std_fidelity": 0.37249609903622566, "min_fidelity": -1.4798435791581208, "n_faithful": 4 }, "gates": { "auroc_beats_baseline": true, "auprc_beats_baseline_margin_0.02": true, "calibration_slope_in_range": true, "calibration_intercept_in_range": false, "dca_net_benefit_positive": true, "lrp_fidelity_ge_0.3": false }, "release_status": "RESEARCH_ONLY_NOT_PROMOTED", "meta": { "n_genes": 570, "gene_list": [ "14q partial distal trisomy syndrome", "ABCA7", "ABCC2", "ABHD17B", "ABHD3", "ACD", "ADAMTS1", "ADAMTS9", "ADAP2", "AIMP2", "AKAP11", "AKT1", "ALK", "ALS2", "ANG", "ANKRD22", "ANKRD26", "AOPEP", "APBA2", "APC", "APOB", "APOB3'MAR", "APOE", "APP", "AR", "ARID1A", "ASXL1", "ATM", "ATP13A2", "ATR", "ATRX", "AXIN2", "BAP1", "BARD1", "BAX", "BCL10", "BCL2", "BCL6", "BIVM-ERCC5", "BRAF", "BRCA1", "BRCA2", "BRIP1", "BRK1", "C10orf55", "C6orf201", "C9orf72", "CARD11", "CASP10", "CASP8", "CASR", "CBL", "CCND1", "CCNF", "CDH1", "CDK4", "CDK6", "CDKN2A", "CEBPA", "CEP290", "CFTR", "CFTR-AS1", "CFTR-AS2", "CHCHD10", "CHEK2", "CHMP2B", "CNTN1", "COL18A1", "COL4A4", "CPSF2", "CREBBP", "CTAGE1", "CTNNA1", "CTNNB1", "CYLD", "Cardiovascular phenotype", "DAXX", "DCTN1", "DDX41", "DHCR7", "DICER1", "DIPK1A", "DKC1", "DMD", "DNAJC6", "DNAJC7", "DNMT3A", "EGFR", "EGFR-AS1", "EGFR-related lung cancer", "EGLN1", "ELANE", "EP300", "EPAS1", "EPCAM", "ERBB2", "ERBB4", "ERCC2", "ERCC4", "ESR1", "ETV6", "EVI2A", "EWSR1", "EZH2", "FAN1", "FANCA", "FANCC", "FANCD2", "FANCE", "FANCG", "FANCI", "FAS", "FASLG", "FBP2", "FBXW7", "FH", "FLCN", "FLT1", "FLT3", "FMR1", "FOXA1", "FOXL2", "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED", "FUS", "FXR2", "G6PD", "GALNT12", "GATA2", "GATA3", "GBA", "GBA1", "GBE1", "GLE1", "GLI1", "GLIS2", "GNA11", "GNAQ", "GNAS", "GPD1", "GRN", "H3-3B", "H3F3A", "HBB", "HEATR3", "HIF1A", "HNRNPA2B1", "HRAS", "HTT", "Hereditary nonpolyposis colorectal neoplasms", "IDH1", "IDH2", "IDH3A", "INVS", "IQCB1", "Inborn genetic diseases", "Inherited MMR deficiency (Lynch syndrome)", "Inherited breast cancer and ovarian cancer", "Inherited ovarian cancer (without breast cancer)", "JAK1", "JAK2", "KDM6A", "KDR", "KIF1A", "KIF5A", "KIT", "KMT2A", "KMT2D", "KRAS", "LALTOP", "LDLR", "LDLRAP1", "LNCR-SMAL", "LOC107303340", "LOC108281125", "LOC108281182", "LOC108903148", "LOC110806263", "LOC110806306", "LOC111674477", "LOC114803469", "LOC126806050", "LOC126807526", "LOC126861339", "LOC126861451", "LOC126862483", "LOC126862571", "LOC129390965", "LOC129937550", "LOC130007385", "LOC130055403", "LOC130062441", "LOC132090298", "LRRFIP2", "LRRK2", "LZTR1", "Li-Fraumeni syndrome 1", "MAP2K1", "MAP2K2", "MAPT", "MATR3", "MBD4", "MDM2", "MDM4", "MEN1", "MET", "MIR6084", "MLH1", "MLH3", "MONDO:0000507", "MONDO:0002447", "MONDO:0003582", "MONDO:0004975", "MONDO:0004976", "MONDO:0005145", "MONDO:0005180", "MONDO:0005439", "MONDO:0005575", "MONDO:0005835", "MONDO:0007039", "MONDO:0007086", "MONDO:0007088", "MONDO:0007089", "MONDO:0007103", "MONDO:0007104", "MONDO:0007105", "MONDO:0007110", "MONDO:0007356", "MONDO:0007485", "MONDO:0007488", "MONDO:0007648", "MONDO:0007750", "MONDO:0007827", "MONDO:0008018", "MONDO:0008021", "MONDO:0008192", "MONDO:0008199", "MONDO:0008200", "MONDO:0008233", "MONDO:0008243", "MONDO:0008280", "MONDO:0008453", "MONDO:0008555", 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"MONDO:0012933", "MONDO:0012937", "MONDO:0013196", "MONDO:0013216", "MONDO:0013248", "MONDO:0013253", "MONDO:0013264", "MONDO:0013292", "MONDO:0013308", "MONDO:0013357", "MONDO:0013398", "MONDO:0013499", "MONDO:0013521", "MONDO:0013522", "MONDO:0013565", "MONDO:0013625", "MONDO:0013669", "MONDO:0013692", "MONDO:0013699", "MONDO:0013710", "MONDO:0013725", "MONDO:0013888", "MONDO:0014025", "MONDO:0014045", "MONDO:0014048", "MONDO:0014108", "MONDO:0014178", "MONDO:0014223", "MONDO:0014231", "MONDO:0014233", "MONDO:0014252", "MONDO:0014382", "MONDO:0014536", "MONDO:0014600", "MONDO:0014612", "MONDO:0014630", "MONDO:0014641", "MONDO:0014690", "MONDO:0014796", "MONDO:0014802", "MONDO:0014809", "MONDO:0014975", "MONDO:0014979", "MONDO:0014986", "MONDO:0014987", "MONDO:0015253", "MONDO:0015356", "MONDO:0015780", "MONDO:0016063", "MONDO:0016073", "MONDO:0016248", "MONDO:0016419", "MONDO:0017276", "MONDO:0017623", "MONDO:0018150", "MONDO:0018604", "MONDO:0018630", "MONDO:0018770", "MONDO:0018874", "MONDO:0018875", "MONDO:0018881", "MONDO:0018921", "MONDO:0018975", "MONDO:0018996", "MONDO:0019005", "MONDO:0021056", "MONDO:0024537", "MONDO:0024551", "MONDO:0030690", "MONDO:0030805", "MONDO:0030872", "MONDO:0031071", "MONDO:0032865", "MONDO:0033362", "MONDO:0042490", "MONDO:0044300", "MONDO:0054750", "MONDO:0100216", "MONDO:0100553", "MONDO:0700270", "MONDO:0800444", "MONDO:0859183", "MONDO:0859246", "MONDO:0859267", "MONDO:0957530", "MONDO:0975748", "MONDO:0980991", "MONDO:8000012", "MPO", "MSH2", "MSH3", "MSH6", "MTOR", "MUTYH", "MYC", "MYD88", "NBN", "NEFH", "NEK1", "NF1", "NF2", "NOTCH1", "NOTCH3", "NPHP1", "NPHP3", "NPHP3-ACAD11", "NPHP4", "NPM1", "NRAS", "NTHL1", "OLR1", "OPTN", "OSBPL1A", "PALB2", "PARK7", "PARN", "PAX8", "PBRM1", "PCSK9", "PDGFRA", "PIK3C2G", "PIK3CA", "PIK3R1", "PIKFYVE", "PINK1", "PMS1", "PMS2", "POLD1", "POLE", "POLH", "PRKAG2", "PRKAR1A", "PRKN", "PRPH", "PSAP", "PSEN1", "PSEN2", "PTCH1", "PTEN", "PTPN11", "PTRH2", "Partial 18p monosomy with 18q trisomy", "RAB32", "RAD51", "RAD51C", "RAD51D", "RAF1", "RB1", "REL", "RET", "RHOT1", "RPA1", "RPS10", "RPS17", "RPS19", "RPS20", "RUNX1", "SAMD9L", "SDHB", "SDHD", "SEC23B", "SETD2", "SETX", "SH2D1A", "SHOC2", "SLC52A3", "SLX4", "SMAD4", "SMARCB1", "SMN1", "SMO", "SNCA", "SOCS1", "SOD1", "SORL1", "SOS1", "SPG11", "SPRED1", "SQSTM1", "STAG2", "STAT3", "STK11", "SUFU", "SUPT16H", "SYNJ1", "See cases", "TAF15", "TARDBP", "TBK1", "TERT", "TET2", "TINF2", "TNFAIP3", "TP53", "TP53BP1", "TRPM7", "TSC1", "TSC2", "TTC21B", "Triple-negative breast cancer", "UBQLN2", "USB1", "VAPB", "VCP", "VEGFA", "VHL", "VPS13C", "VPS35", "WT1", "XIAP", "XPA", "XRCC1", "XRCC2", "ZCCHC8", "not provided", "not specified", "tissue:Adipose_Subcutaneous", "tissue:Adipose_Visceral_Omentum", "tissue:Adrenal_Gland", "tissue:Artery_Aorta", "tissue:Artery_Coronary", "tissue:Artery_Tibial", "tissue:Bladder", "tissue:Brain_Amygdala", "tissue:Brain_Anterior_cingulate_cortex_BA24", "tissue:Brain_Caudate_basal_ganglia", "tissue:Brain_Cerebellar_Hemisphere", "tissue:Brain_Cerebellum", "tissue:Brain_Cortex", "tissue:Brain_Frontal_Cortex_BA9", "tissue:Brain_Hippocampus", "tissue:Brain_Hypothalamus", "tissue:Brain_Nucleus_accumbens_basal_ganglia", "tissue:Brain_Putamen_basal_ganglia", "tissue:Brain_Spinal_cord_cervical_c-1", "tissue:Brain_Substantia_nigra", "tissue:Breast_Mammary_Tissue", "tissue:Cells_Cultured_fibroblasts", "tissue:Cells_EBV-transformed_lymphocytes", "tissue:Cervix_Ectocervix", "tissue:Cervix_Endocervix", "tissue:Colon_Sigmoid", "tissue:Colon_Transverse", "tissue:Esophagus_Gastroesophageal_Junction", "tissue:Esophagus_Mucosa", "tissue:Esophagus_Muscularis", "tissue:Fallopian_Tube", "tissue:Heart_Atrial_Appendage", "tissue:Heart_Left_Ventricle", "tissue:Kidney_Cortex", "tissue:Kidney_Medulla", "tissue:Liver", "tissue:Lung", "tissue:Minor_Salivary_Gland", "tissue:Muscle_Skeletal", "tissue:Nerve_Tibial", "tissue:Ovary", "tissue:Pancreas", "tissue:Pituitary", "tissue:Prostate", "tissue:Skin_Not_Sun_Exposed_Suprapubic", "tissue:Skin_Sun_Exposed_Lower_leg", "tissue:Small_Intestine_Terminal_Ileum", "tissue:Spleen", "tissue:Stomach", "tissue:Testis", "tissue:Thyroid", "tissue:Uterus", "tissue:Vagina", "tissue:Whole_Blood" ], "n_positive": 226, "n_negative": 93, "n_unlabeled": 251, "seed_genes": [ "TP53", "BRCA1", "BRCA2", "PTEN", "EGFR", "KRAS", "APC", "VHL" ], "layers": { "L1": { "nodes": 158, "edges": 3833 }, "L2": { "nodes": 196, "edges": 7668 }, "L3": { "nodes": 412, "edges": 342 }, "L4": { "nodes": 0, "edges": 0 } }, "l4_status": "BLOCKED (CELLxGENE SIGILL in sandbox) \u2014 empty, no fabricated data", "sources": [ "STRING v12.0 (real)", "ClinVar esummary (real, dated)", "GTEx Portal API v2 (real)", "Gene Ontology (real, term-only, not gene-linked)" ], "panel_genes": [ "AKT1", "ALK", "APC", "APOE", "APP", "AR", "ARID1A", "ASXL1", "ATM", "ATR", "ATRX", "AXIN2", "BAP1", "BARD1", "BAX", "BCL10", "BCL2", "BCL6", "BRAF", "BRCA1", "BRCA2", "BRIP1", "C9orf72", "CARD11", "CASP8", "CASR", "CBL", "CCND1", "CDH1", "CDK4", "CDK6", "CDKN2A", "CEBPA", "CFTR", "CHEK2", "CREBBP", "CTNNB1", "DAXX", "DMD", "DNMT3A", "EGFR", "EGLN1", "EP300", "EPAS1", "EPCAM", "ERBB2", "ERCC2", "ESR1", "EZH2", "FBXW7", "FH", "FLT1", "FLT3", "FMR1", "FOXA1", "FOXL2", "FUS", "G6PD", "GATA3", "GBA", "GLI1", "GNA11", "GNAQ", "GNAS", "GRN", "H3F3A", "HBB", "HIF1A", "HRAS", "HTT", "IDH1", "IDH2", "IDH3A", "JAK1", "JAK2", "KDM6A", "KDR", "KIT", "KMT2A", "KMT2D", "KRAS", "LDLR", "LRRK2", "LZTR1", "MAP2K1", "MAP2K2", "MAPT", "MDM2", "MDM4", "MEN1", "MET", "MLH1", "MSH2", "MSH3", "MSH6", "MTOR", "MYC", "MYD88", "NF1", "NF2", "NOTCH1", "NPM1", "NRAS", "PALB2", "PARK7", "PAX8", "PBRM1", "PCSK9", "PDGFRA", "PIK3CA", "PIK3R1", "PINK1", "PMS2", "POLD1", "POLE", "PRKAR1A", "PSEN1", "PSEN2", "PTCH1", "PTEN", "PTPN11", "RAD51C", "RAD51D", "RAF1", "RB1", "RET", "RUNX1", "SDHB", "SDHD", "SETD2", "SHOC2", "SMAD4", "SMARCB1", "SMN1", "SMO", "SNCA", "SOCS1", "SOD1", "SOS1", "SPRED1", "STAG2", "STAT3", "STK11", "SUFU", "TARDBP", "TERT", "TET2", "TNFAIP3", "TP53", "TP53BP1", "TSC1", "TSC2", "VEGFA", "VHL", "WT1", "XRCC1" ] } }