2026-10-11T19:37:59Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34036148 2026-09-30T17:44:30Z category_7 category_13 category_14 category_15 category_21 category_272 category_734 category_811 category_132 category_133 portal_5 item_type_3 month_year_09_2026

<p>Accuracy, Sensitivity and Specificity for CADD and REVEL with strong evidence of classification. Labeled benign and labeled pathogenic variants were used to evaluate ClinVar 2019 derived score thresholds and thresholds derived from the DVD likelihood and prior probability of 12.6% or tolerance-based prior unique to each bin defined in Table 1.</p> Rose A. Gogal (25145417) Genevieve M. Cox (25145420) Diana L. Kolbe (25145423) Amanda M. Odell (25145426) Chloe E. Ovel (25145429) Katherine I. McCormick (25145432) Brian Hong (9094275) Hela Azaiez (713978) Thomas L. Casavant (10476490) Richard J. H. Smith (10957842) Terry A. Braun (18231361) Michael J. Schnieders (1782085) Medicine Genetics Molecular Biology Neuroscience Biotechnology Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified Infectious Diseases Plant Biology world &# 8217 patient &# 8217 identify twelve probands clinvar 2019 dataset highlight two variants deafness variation database higher prior probability dvd dataset demonstrates missense variation based computational evidence based labeled dvd variants 752 missense variants 237 missense variants deafness associated vus protein folding stability 7 %) genes least 2 kcal intolerant dvd genes deafness variants 7 %) vus ). posterior probability 752 ). 237 ). 0 kcal uncertain significance three bins simpler versions public resource protein misfolding probabilistic frameworks genetic diagnosis biophysical rationale biophysical characterization best accuracy bayesian model amp recommendations also offering 577 classified <p>Accuracy, Sensitivity and Specificity for CADD and REVEL with strong evidence of classification. Labeled benign and labeled pathogenic variants were used to evaluate ClinVar 2019 derived score thresholds and thresholds derived from the DVD likelihood and prior probability of 12.6% or tolerance-based prior unique to each bin defined in Table 1.</p> 2026-09-30T17:56:54Z Dataset Dataset 10.1371/journal.pgen.1012085.t003 https://figshare.com/articles/dataset/_p_Accuracy_Sensitivity_and_Specificity_for_CADD_and_REVEL_with_strong_evidence_of_classification_Labeled_benign_and_labeled_pathogenic_variants_were_used_to_evaluate_ClinVar_2019_derived_score_thresholds_and_thresholds_derived_from_the_DVD/34036148 CC BY 4.0