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"id": "acmg_predictor_evaluation_03",
"category": "ACMG & In Silico Predictors",
"title": "CADD Phred v1.6 Pathogenicity Calibration & Machine Learning Performance",
"description": "Deleterious threshold calibrations, specificity, and ROC performance for CADD Phred v1.6.",
"columns": [
"Predictor Parameter",
"Algorithm Architecture",
"Calibrated Cutoff",
"Mitotic Specificity",
"Proband Variant Evaluation",
"ACMG Evidence Code"
],
"rows": [
[
"Algorithm Profile: CADD Phred v1.6",
"Support Vector Machine on 60+ Annotations",
"> 20 (Top 1% Damaging)",
"96.5% Concordance",
"BUB1B Truncation = 38.0 Phred",
"PP3 / PS3 Criteria"
],
[
"Tested Locus 3A",
"Gene Model 3",
"Cutoff Delta 0.12",
"Deleterious Prediction 3",
"ClinVar Score 36",
"PS1 / PM1 Validation"
],
[
"Tested Locus 3B",
"Variant Target 3",
"Percentile 95.45%",
"Pathogenic Classification 3",
"Loss of function rank 3",
"PVS1 Support"
],
[
"Benchmark ROC 3C",
"Empirical Calibration Dataset",
"AUC = 0.909",
"False positive rate 0.30%",
"Calibrated on pediatric sarcoma cohort",
"ACMG Consensus Gate"
]
],
"tags": [
"ACMG",
"InSilico",
"CADD"
],
"row_count": 4,
"columns_count": 6
} |