2026-10-14T14:37:49Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34036145 2026-09-30T17:44:29Z 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>CADD and REVEL evidence thresholds. The ClinVar 2019 score thresholds and score thresholds derived from a DVD likelihood with a DVD prior and tolerance-based prior for CADD or REVEL to provide evidence level for benign or pathogenic classification, as described in the text. *The Bin/Prior column uses either the DVD likelihood with tolerance-based bins or the DVD prior as defined in Table 1, or the score thresholds derived from the ClinVar 2019 dataset. Entries were left blank if no threshold value could achieve that level of evidence.</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>CADD and REVEL evidence thresholds. The ClinVar 2019 score thresholds and score thresholds derived from a DVD likelihood with a DVD prior and tolerance-based prior for CADD or REVEL to provide evidence level for benign or pathogenic classification, as described in the text. *The Bin/Prior column uses either the DVD likelihood with tolerance-based bins or the DVD prior as defined in Table 1, or the score thresholds derived from the ClinVar 2019 dataset. Entries were left blank if no threshold value could achieve that level of evidence.</p> 2026-09-30T17:56:54Z Dataset Dataset 10.1371/journal.pgen.1012085.t002 https://figshare.com/articles/dataset/_p_CADD_and_REVEL_evidence_thresholds_The_ClinVar_2019_score_thresholds_and_score_thresholds_derived_from_a_DVD_likelihood_with_a_DVD_prior_and_tolerance-based_prior_for_CADD_or_REVEL_to_provide_evidence_level_for_benign_or_pathogenic_class/34036145 CC BY 4.0