{"id":"W6939595921","doi":"10.6084/m9.figshare.26630722.v1","title":"Additional file 2 of Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions","year":2024,"lang":"en","type":"article","venue":"Figshare","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Hamilton Health Sciences; Toronto General Hospital; University of Toronto; University of Ottawa; Montreal Heart Institute","funders":"","keywords":"Inheritance (genetic algorithm); Mechanism (biology); Key (lock); Allele; Disease; 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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.003046163,0.001115483,0.001154148,0.003621131,0.0009414941,0.002345232,0.001825157,0.001291431,0.8240896],"category_scores_gemma":[0.03907809,0.0006261273,0.001079912,0.004429965,0.0003553898,0.002594097,0.001719299,0.001042838,0.1994761],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001408669,"about_ca_system_score_gemma":0.002585139,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008884017,"about_ca_topic_score_gemma":0.01262807,"domain_scores_codex":[0.9988548,0.0002305817,0.0002617706,0.0002941948,0.0002350289,0.0001237066],"domain_scores_gemma":[0.9627663,0.02781259,0.001882284,0.002303069,0.004420671,0.0008151779],"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":[0.0002192511,0.00003517263,0.001608982,0.002086013,0.00003418085,0.000059052,0.00007327816,0.0001798898,0.000117091,0.0008978609,0.9878775,0.006811782],"study_design_scores_gemma":[0.001749805,0.00009729209,0.01387746,0.003438951,0.0001299069,0.0003995402,0.0003821037,0.0007874946,0.0008901953,0.01011337,0.9680233,0.0001106955],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.00009507958,0.00001683252,0.0003101644,0.0001083728,0.00002094502,0.00006453402,0.9980814,0.0003379666,0.0009646968],"genre_scores_gemma":[0.003369048,0.0001031608,0.003510098,0.0005046582,0.00008498947,0.0009302244,0.9842851,0.001160339,0.006052399],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.8240896,"threshold_uncertainty_score":0.2509147,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04216139621800365,"score_gpt":0.273383297778571,"score_spread":0.2312219015605674,"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."}}