{"id":"W2094672383","doi":"10.4061/2011/540178","title":"Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta","year":2011,"lang":"en","type":"article","venue":"Journal of Osteoporosis","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":108,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Fonds de Recherche du Québec - Santé","keywords":"Osteogenesis imperfecta; Phenotype; Medicine; Genotype; Genetics; Type I collagen; Gene; Genotype-phenotype distinction; Mutation; Population; Pathology; Biology","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":[0.0003987561,0.0001305122,0.0002145035,0.0001970276,0.00005662756,0.0000129431,0.0002699307,0.0001319698,0.0003420183],"category_scores_gemma":[0.00031047,0.0001179601,0.0001458995,0.0002252068,0.00006529367,0.00001191448,0.00009898929,0.0001683737,0.00002583905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004210354,"about_ca_system_score_gemma":0.0002007552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000132433,"about_ca_topic_score_gemma":0.0003640825,"domain_scores_codex":[0.9988391,0.00011125,0.0004051923,0.0001812403,0.0002083715,0.000254882],"domain_scores_gemma":[0.9991377,0.00003011618,0.0002077516,0.0002349384,0.0002856237,0.0001038649],"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":[0.0007471864,0.0002953974,0.149297,0.00001769482,0.00009590175,0.00005144944,0.001459574,0.00003600142,0.8363248,0.0000661585,0.0006761865,0.01093272],"study_design_scores_gemma":[0.003115166,0.002784323,0.5791206,0.0000581168,0.00008695724,0.000222378,0.001686092,0.00006054121,0.4066508,0.0003201248,0.005474913,0.0004199625],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955316,0.001903813,0.0003088245,0.00009941304,0.0002072883,0.0001452367,0.000008735467,0.000002393786,0.001792701],"genre_scores_gemma":[0.9982443,0.0002124534,0.001051145,0.00003632949,0.0001108493,0.000006771743,0.000008196294,0.00002379979,0.0003061079],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4298237,"threshold_uncertainty_score":0.4810272,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02311884312053112,"score_gpt":0.2712565122402864,"score_spread":0.2481376691197552,"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."}}