{"id":"W4321748330","doi":"10.1002/jbmr.4795","title":"Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism","year":2020,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Care Foundation","funders":"National Health and Medical Research Council; Seventh Framework Programme; Elizabeth Blackwell Institute for Health Research, University of Bristol; Menzies Institute for Medical Research; Medical Research Council; International Seafood Sustainability Foundation; Versus Arthritis; Australian Cancer Research Foundation; Medical Research Council Canada; University of Tasmania; University of Bristol; University of New South Wales; Wellcome Trust","keywords":"Osteoporosis; Femoral neck; Genetics; Exome sequencing; Biology; Bone mineral; Endocrinology; Internal medicine; Medicine; Gene; Phenotype","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":[0.001074072,0.00009043108,0.0003221946,0.0001167372,0.00003286465,0.00003037135,0.00008801431,0.0000927047,0.00001439142],"category_scores_gemma":[0.0002483621,0.00007417942,0.00005853578,0.000141573,0.00007383069,0.00000941569,0.0001723787,0.0002755048,5.93245e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004697548,"about_ca_system_score_gemma":0.00006991532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007474499,"about_ca_topic_score_gemma":0.0000204255,"domain_scores_codex":[0.9987849,0.0001503303,0.0003717144,0.0001575004,0.0002975766,0.000237975],"domain_scores_gemma":[0.9994226,0.00003121756,0.0001361652,0.00009475406,0.0001491175,0.0001661968],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000159281,0.00003583733,0.03498815,0.00007497179,0.00003753223,0.00007619613,0.0001448205,0.000009347159,0.9578648,0.00002251884,0.0004765704,0.006110004],"study_design_scores_gemma":[0.004847091,0.002184237,0.6655076,0.0001822561,0.00004269723,0.0006467584,0.0007172953,0.0002630345,0.3182665,0.0002404816,0.00685269,0.0002494242],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884273,0.01034186,0.00003071819,0.0008300868,0.00003739851,0.00009381413,0.000004667534,6.440182e-7,0.0002334906],"genre_scores_gemma":[0.9963444,0.002618003,0.0006237532,0.0000754442,0.0001169406,0.000001366232,0.000002410544,0.00001075164,0.0002068784],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6395983,"threshold_uncertainty_score":0.3024949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03603199247002496,"score_gpt":0.3250637518560142,"score_spread":0.2890317593859892,"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."}}