{"id":"W1780807233","doi":"10.1007/s00223-015-0066-6","title":"Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions","year":2015,"lang":"en","type":"article","venue":"Calcified Tissue International","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Children's Hospital of Eastern Ontario; McGill University; Montreal Children's Hospital","funders":"","keywords":"Haploinsufficiency; Osteogenesis imperfecta; Frameshift mutation; Genetics; Biology; Comparative genomic hybridization; Gene; Mutation; Phenotype; Genome","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":[0.0001522162,0.0001263038,0.00009919409,0.00006670187,0.00005313311,0.00004095735,0.0003370073,0.0001221093,0.0004709515],"category_scores_gemma":[0.0004937786,0.0001366826,0.00004121838,0.0001274828,0.00007598904,0.000006080175,0.0001531349,0.00008425352,0.0002763752],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006407113,"about_ca_system_score_gemma":0.00015094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001054747,"about_ca_topic_score_gemma":0.00008607187,"domain_scores_codex":[0.998948,0.00006160444,0.0001522079,0.0003296241,0.0002926528,0.0002158885],"domain_scores_gemma":[0.9989766,0.00002145122,0.00003973898,0.0002504043,0.0005507584,0.0001610489],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001328665,0.00008975851,0.002335953,0.000003189954,0.000104066,0.000009316665,0.00007503729,0.00003476527,0.8376858,0.0002984339,0.1542155,0.005015344],"study_design_scores_gemma":[0.0008256479,0.0002677095,0.0007619646,0.000004062235,0.000008203036,0.00001544516,0.0001254098,0.0001019566,0.2898714,0.000094637,0.7077378,0.0001857733],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9757072,0.002099952,0.003440173,0.001845587,0.000905738,0.0003352678,0.000202498,0.00003529033,0.0154283],"genre_scores_gemma":[0.983698,0.00006896675,0.0001171036,0.000175785,0.0002743838,0.00004835667,0.001083555,0.0000286001,0.01450528],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5535223,"threshold_uncertainty_score":0.5573754,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03671004707820816,"score_gpt":0.3453372425087656,"score_spread":0.3086271954305574,"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."}}