{"id":"W4408534447","doi":"10.1093/jbmrpl/ziaf044","title":"The ALPL gene variant project: results of the first 100 reclassified variants","year":2025,"lang":"en","type":"article","venue":"JBMR Plus","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Health Sciences Centre; Manitoba Health","funders":"Alexion Pharmaceuticals; AstraZeneca","keywords":"Genetics; Gene; Computational biology; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003238732,0.0001305001,0.0001383659,0.00002509162,0.0002408402,0.00002889355,0.0005289979,0.0001284204,0.000004771341],"category_scores_gemma":[0.0003203011,0.00007468685,0.0001054115,0.0002312972,0.0001418965,0.000001533827,0.0002464809,0.0000816834,0.000004365095],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005356119,"about_ca_system_score_gemma":0.0003689856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001680213,"about_ca_topic_score_gemma":0.0003991249,"domain_scores_codex":[0.9989396,0.00008560557,0.0003036005,0.0002978664,0.0001455547,0.0002277134],"domain_scores_gemma":[0.9988713,0.00003664551,0.0001246897,0.000865111,0.00007857428,0.00002364652],"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":[0.003279181,0.0004756406,0.001632764,0.0001916621,0.0009691858,0.00001176296,0.001135771,0.0007290892,0.2445928,0.01837472,0.6806193,0.04798808],"study_design_scores_gemma":[0.001989771,0.00006517686,0.02053847,0.00002798829,0.00006100179,0.000005849741,0.0001459913,0.0002445233,0.07597331,0.0007211637,0.9000723,0.0001544228],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5441961,0.0151041,0.003418555,0.02377583,0.00787204,0.003739821,0.0005463861,0.00006429585,0.4012829],"genre_scores_gemma":[0.9690566,0.001257803,0.0003815967,0.000949194,0.0001926242,0.00006506649,0.00004659069,0.00001873189,0.0280318],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4248605,"threshold_uncertainty_score":0.3045641,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01138587804738489,"score_gpt":0.2559235998213422,"score_spread":0.2445377217739573,"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."}}