{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005296794,0.0004924824,0.0005643371,0.001195687,0.0003583108,0.0004107006,0.0002148962,0.0005036058,0.001798483],"category_scores_gemma":[0.004191785,0.0001950836,0.0002194467,0.001085193,0.0004258058,0.0002033816,0.0004270306,0.0002936356,0.000340107],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001144289,"about_ca_system_score_gemma":0.0001529097,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006226805,"about_ca_topic_score_gemma":0.0006537124,"domain_scores_codex":[0.9991806,0.0003071508,0.0001205777,0.0001610133,0.0001730952,0.00005759498],"domain_scores_gemma":[0.9972029,0.001557785,0.0008197812,0.0001206791,0.0001843237,0.0001145748],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006161894,0.00007229135,0.8720394,0.0002376517,0.0002035786,0.06915755,0.001147778,0.0007399584,0.02489585,0.0006619724,0.0009394696,0.02928843],"study_design_scores_gemma":[0.00002060444,0.0002921244,0.842805,0.00005816338,0.0001632083,0.1500043,0.0003605575,0.0005483276,0.002826686,0.0007531197,0.002138028,0.00002996156],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933144,0.002657995,0.0009244445,0.0001579197,0.0000223231,0.00001591778,0.0002609866,0.00003546662,0.002610343],"genre_scores_gemma":[0.9985192,0.0005490658,0.000576367,0.0000523311,0.00002095678,0.000006767031,0.00008717506,0.00001166078,0.0001764764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001798483,"threshold_uncertainty_score":0.006016493,"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."}}