{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.008239032,0.001710401,0.001904186,0.01004909,0.001168455,0.004184216,0.003382896,0.001677356,0.04288973],"category_scores_gemma":[0.02254499,0.0006053771,0.001652149,0.01015436,0.000554523,0.00181849,0.005555178,0.002026972,0.02988772],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00166408,"about_ca_system_score_gemma":0.008811026,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01196457,"about_ca_topic_score_gemma":0.007153947,"domain_scores_codex":[0.9948311,0.0008594684,0.001021942,0.001231843,0.001538182,0.0005175174],"domain_scores_gemma":[0.9819528,0.002859178,0.002173292,0.002669075,0.007004144,0.003341464],"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":[0.0007589277,0.00008504124,0.01947522,0.001645618,0.0001745048,0.0004245235,0.0002137176,0.0005934566,0.002209909,0.003264131,0.8012853,0.1698697],"study_design_scores_gemma":[0.0004436627,0.0001667316,0.04296885,0.001933353,0.0003792334,0.002037232,0.000249762,0.003026058,0.004104605,0.007057576,0.9375191,0.0001137849],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.0152087,0.004852089,0.02359212,0.005666037,0.00155341,0.001542762,0.9186658,0.009145895,0.01977315],"genre_scores_gemma":[0.01003319,0.001144491,0.02731718,0.0008375358,0.0003046932,0.001021078,0.9527721,0.001829823,0.004739869],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.04288973,"threshold_uncertainty_score":0.1434805,"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."}}