{"id":"W7071522699","doi":"","title":"Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation","year":2023,"lang":"en","type":"article","venue":"","topic":"Antifungal resistance and susceptibility","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Germline; Genome; Key (lock); Genomics; Mutation","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02266427,0.001202151,0.001459753,0.007391439,0.001647695,0.004033516,0.003230274,0.003846669,0.01565992],"category_scores_gemma":[0.07427096,0.0007283377,0.002517487,0.004003015,0.001208968,0.001915678,0.002779502,0.003966993,0.01301149],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002648869,"about_ca_system_score_gemma":0.009782167,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01366216,"about_ca_topic_score_gemma":0.01864655,"domain_scores_codex":[0.9839245,0.004858592,0.005917799,0.0009065394,0.003395815,0.0009967441],"domain_scores_gemma":[0.941996,0.01863311,0.004945475,0.004042701,0.02855591,0.001826916],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009578508,0.0001603875,0.01306621,0.004164604,0.000240646,0.001053575,0.001304675,0.00246892,0.009714425,0.02970673,0.5977133,0.3394488],"study_design_scores_gemma":[0.0002033607,0.0001981173,0.008788095,0.006534867,0.0002705555,0.003032284,0.0006152806,0.002369606,0.01015293,0.0170871,0.9505955,0.0001523478],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.03333478,0.0597966,0.3880495,0.1352431,0.01602664,0.01114234,0.1142514,0.019077,0.2230786],"genre_scores_gemma":[0.08089506,0.02878987,0.6357864,0.0479292,0.003054124,0.01053722,0.1472074,0.004586118,0.0412147],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.02266427,"threshold_uncertainty_score":0.1198615,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.3561271358176037,"score_gpt":0.4188560276692924,"score_spread":0.06272889185168867,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}