{"id":"W4214947825","doi":"10.1186/s12920-022-01198-9","title":"Attenuated clinical and osteoclastic phenotypes of Paget’s disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene","year":2022,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Bone health and treatments","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Fondation CHU de Québec","keywords":"Phenotype; Human genetics; Mutation; Genetics; Gene; Clinical phenotype; Paget's disease of bone; Biology; Disease; Cancer research; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001371317,0.0001099854,0.000359937,0.00005414978,0.00008868668,0.000004307959,0.000136483,0.00006674833,0.0001073215],"category_scores_gemma":[0.001449222,0.0000650528,0.00006860905,0.0002301236,0.0001432837,0.00001253238,0.0001165866,0.000308749,0.000006919612],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004691003,"about_ca_system_score_gemma":0.0008690554,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002001081,"about_ca_topic_score_gemma":0.0001788243,"domain_scores_codex":[0.9978533,0.0004627185,0.000705428,0.0002373928,0.0005374666,0.0002036721],"domain_scores_gemma":[0.9982303,0.0008921398,0.0001657703,0.0003084821,0.00004474833,0.0003585084],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.04189232,0.01452625,0.6954344,0.004037434,0.001008876,0.005452359,0.02260537,0.001328053,0.001786931,0.002177778,0.03721642,0.1725338],"study_design_scores_gemma":[0.01933039,0.003290601,0.9375405,0.0002605123,0.0009348202,0.0004531544,0.002077654,0.02092673,0.00005252926,0.0008138331,0.01400034,0.0003189275],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889708,0.001662477,0.0006013196,0.00737559,0.0001549452,0.001040933,0.0001497352,0.00000906295,0.00003520394],"genre_scores_gemma":[0.9956691,0.0001801625,0.0005612762,0.003159693,0.00007010138,0.0001151694,0.0001623875,0.00001454301,0.00006760356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2421061,"threshold_uncertainty_score":0.2652776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03424890224823891,"score_gpt":0.3186571698376434,"score_spread":0.2844082675894045,"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."}}