{"id":"W4388007207","doi":"10.1016/j.bone.2023.116947","title":"The Global ALPL gene variant classification project: Dedicated to deciphering variants","year":2023,"lang":"en","type":"article","venue":"Bone","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre","funders":"Duke University; Alexion Pharmaceuticals","keywords":"Hypophosphatasia; Genetics; Database; Gene; Phenotype; Medical genetics; Genetic testing; Computational biology; Bioinformatics; Biology; Computer science; Alkaline phosphatase","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0007327261,0.000124453,0.0001926511,0.00006068596,0.0003071587,0.00004052337,0.000142778,0.00005022352,0.00001806439],"category_scores_gemma":[0.001289479,0.00008313789,0.00004580483,0.001374948,0.00007394297,0.00004349785,0.0002342755,0.000120929,0.0008100596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002047995,"about_ca_system_score_gemma":0.0002598068,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002252369,"about_ca_topic_score_gemma":0.00007019893,"domain_scores_codex":[0.998385,0.00004845349,0.0002577562,0.0002960838,0.0005349471,0.0004777286],"domain_scores_gemma":[0.9990277,0.0001279042,0.00005119178,0.0004488401,0.0001657808,0.0001786154],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.002708611,0.000781869,0.02193016,0.0003393228,0.001807899,0.004076346,0.001723312,0.0000634722,0.07884594,0.0263518,0.6292251,0.2321461],"study_design_scores_gemma":[0.001895035,0.0003132496,0.8449859,0.0001488374,0.0001237845,0.0002263957,0.0007920964,0.008622867,0.001341519,0.00108204,0.1401942,0.0002740871],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7757864,0.01230686,0.01732108,0.1586106,0.001730194,0.009538596,0.0007367076,0.002435628,0.02153392],"genre_scores_gemma":[0.9885726,0.002292597,0.00392471,0.0006138378,0.0005724629,0.000542708,0.0002169098,0.00004903191,0.003215164],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8230557,"threshold_uncertainty_score":0.9999679,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07710776137314292,"score_gpt":0.388171375397274,"score_spread":0.3110636140241311,"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."}}