{"id":"W2012090872","doi":"10.1007/s00439-013-1409-x","title":"Identification of rare genetic variants in novel loci associated with Paget’s disease of bone","year":2013,"lang":"en","type":"article","venue":"Human Genetics","topic":"Bone health and treatments","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec","funders":"Canadian Institutes of Health Research; Health Canada","keywords":"Biology; Human genetics; Genetics; Identification (biology); Metabolic disease; Disease; Paget's disease of bone; Computational biology; Evolutionary biology; Gene; Internal medicine; Endocrinology","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":[0.00006973222,0.00009802685,0.0002480998,0.0001008375,0.00002678594,0.000004965057,0.00004355959,0.00005745643,0.00008128884],"category_scores_gemma":[0.00004747927,0.00008460718,0.00003113374,0.0001563691,0.00006413872,0.00002195044,0.00001586371,0.00006242634,0.00001125873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006146412,"about_ca_system_score_gemma":0.000154393,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001583638,"about_ca_topic_score_gemma":0.0001112031,"domain_scores_codex":[0.9989567,0.00002594103,0.0004571609,0.0001620146,0.0002255623,0.0001726358],"domain_scores_gemma":[0.9991081,0.00001739642,0.0002485533,0.0002979185,0.0001768369,0.0001512465],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009024086,0.001718309,0.9617413,0.0003440448,0.00009058164,0.00003050904,0.000506387,0.00007310834,0.03381198,0.00004492782,0.0001673527,0.001381314],"study_design_scores_gemma":[0.002625348,0.0002368186,0.9942487,0.0001378873,0.000121621,0.000002330723,0.00002757956,0.000575601,0.001779721,0.0001727193,0.000006902225,0.00006479456],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984613,0.0005660607,0.000109053,0.000083566,0.00002027176,0.000620365,0.0000335177,0.00001013918,0.00009572338],"genre_scores_gemma":[0.9986804,0.00003929689,0.0004495958,0.00005761394,0.00001002142,0.00003723411,0.00009551369,0.00001938988,0.0006109867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03250743,"threshold_uncertainty_score":0.3450181,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02888265171658046,"score_gpt":0.281656057907462,"score_spread":0.2527734061908816,"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."}}