{"id":"W3094219899","doi":"10.1016/j.ymgmr.2020.100661","title":"Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Alkaline Phosphatase Research Studies","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Hypophosphatasia; Genetic counseling; Genetics; Disease; Phenotype; Genetic testing; Inheritance (genetic algorithm); Medicine; Bioinformatics; Genetic heterogeneity; Biology; Gene; Alkaline phosphatase; Pathology; Enzyme; Biochemistry","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":[0.0001945384,0.00016187,0.0003367168,0.00007818142,0.00004668074,0.0000140698,0.00002608407,0.00003425617,0.000005265419],"category_scores_gemma":[0.0001594016,0.0001500878,0.00004288418,0.0001077031,0.0001047254,0.00001966059,0.0001401925,0.00008071052,2.545091e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006514126,"about_ca_system_score_gemma":0.00006529027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003128665,"about_ca_topic_score_gemma":0.000008202323,"domain_scores_codex":[0.9985805,0.00003843065,0.000401574,0.0004309994,0.0003469997,0.0002015147],"domain_scores_gemma":[0.999136,0.00002124781,0.00009705051,0.0002363481,0.00009998171,0.0004093554],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004837315,0.0007531057,0.03368349,0.004587098,0.001454096,0.5404776,0.004383484,0.002145926,0.0364431,0.007472764,0.0004015054,0.367714],"study_design_scores_gemma":[0.007946786,0.0004577866,0.8496867,0.0004956487,0.002650697,0.01088652,0.002988354,0.01764242,0.03247194,0.00968995,0.063663,0.001420196],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5679951,0.4302839,0.0004362382,0.0008630232,0.00002361492,0.0003470171,0.00001738466,0.000006642333,0.00002711225],"genre_scores_gemma":[0.8483835,0.1398693,0.01139228,0.0002242222,0.00004457024,0.00003840092,0.00002449421,0.00001869146,0.000004539276],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8160032,"threshold_uncertainty_score":0.6120401,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04048428546878797,"score_gpt":0.2864273633855537,"score_spread":0.2459430779167658,"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."}}