{"id":"W2119571956","doi":"10.1186/s12955-014-0151-y","title":"Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta","year":2014,"lang":"en","type":"review","venue":"Health and Quality of Life Outcomes","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Université Laval; Shriners Hospitals for Children - Canada","funders":"Canadian Institutes of Health Research; Réseau de Recherche en Santé Buccodentaire et Osseuse","keywords":"Achondroplasia; Osteogenesis imperfecta; Duchenne muscular dystrophy; Medicine; Muscular dystrophy; Genetic disorder; Genetic counseling; Physical therapy; Pediatrics; Disease; Genetics; Pathology; Internal medicine; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006339165,0.0004819181,0.003650483,0.0002045048,0.00007517289,0.00001003504,0.0002631377,0.0002691287,0.00002202619],"category_scores_gemma":[0.001506893,0.0003691161,0.001027853,0.0001749431,0.0004668788,0.000005249218,0.0002325581,0.0001507495,0.000001117218],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003358053,"about_ca_system_score_gemma":0.001067515,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001739682,"about_ca_topic_score_gemma":0.0002960275,"domain_scores_codex":[0.9960214,0.001299903,0.001319794,0.0006135879,0.000341878,0.0004034453],"domain_scores_gemma":[0.9967762,0.0006929603,0.00111137,0.000691865,0.0002207706,0.0005068306],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0003854725,0.0004930111,0.3945656,0.1517715,0.003268662,0.000001108573,0.0002527043,0.000002932843,0.000294087,0.00005921462,0.00008944958,0.4488164],"study_design_scores_gemma":[0.003414117,0.007224943,0.9570304,0.004695798,0.001826687,0.00002164631,0.0005843432,0.000019978,0.00008205613,0.00005090247,0.02338191,0.001667255],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.4296376,0.5690397,0.00006192346,0.00002194567,0.00001753478,0.0006476773,0.0005636166,0.000002804191,0.000007197937],"genre_scores_gemma":[0.2599454,0.7395505,0.000180153,0.00001308378,0.00003818123,0.0000738473,0.000155594,0.00003424828,0.000009070769],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.5624648,"threshold_uncertainty_score":0.9998761,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0769053785894102,"score_gpt":0.4417091013978595,"score_spread":0.3648037228084493,"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."}}