{"id":"W2064461458","doi":"10.1038/ejhg.2011.31","title":"New disease gene location and high genetic heterogeneity in idiopathic scoliosis","year":2011,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Scoliosis diagnosis and treatment","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal","funders":"Hospices Civils de Lyon","keywords":"Genetics; Genetic heterogeneity; Biology; Locus (genetics); Genome Scan; Genetic linkage; Genome; Population; Lod score; Gene; Disease; Linkage (software); Idiopathic scoliosis; Gene mapping; Evolutionary biology; Allele; Scoliosis; Chromosome; Microsatellite; Medicine; Phenotype","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":[0.000328897,0.0001630131,0.0002802846,0.0002325303,0.00005248584,0.00002708063,0.0001202173,0.00002185223,0.00003155439],"category_scores_gemma":[0.00002981943,0.0001390804,0.00008188686,0.0001481041,0.00004891197,0.00004372274,0.00005388323,0.0001385755,0.00001655787],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005743195,"about_ca_system_score_gemma":0.0001080833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001561843,"about_ca_topic_score_gemma":0.00001604484,"domain_scores_codex":[0.9986051,0.0002110211,0.0005772939,0.000185204,0.0002405102,0.000180914],"domain_scores_gemma":[0.9988785,0.000005418198,0.0002547632,0.0002566969,0.0001388746,0.0004657614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002275681,0.0006929139,0.9762845,0.0001006344,0.0001321477,0.002435461,0.0008694859,0.00005634753,0.00423782,0.00005292445,0.0001387859,0.0147714],"study_design_scores_gemma":[0.002252413,0.001406694,0.9835265,0.0005997874,0.0002906604,0.0001755181,0.0000228894,0.00001731923,0.01141753,0.0001482977,0.00002698614,0.0001154593],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9806711,0.01842825,0.0004113912,0.00009895237,0.0001052679,0.0001702633,9.828008e-7,0.000007637346,0.0001061286],"genre_scores_gemma":[0.9943296,0.001669531,0.003440355,0.0002066414,0.000299552,0.000001561687,9.198894e-7,0.00003872559,0.00001313158],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01675872,"threshold_uncertainty_score":0.5671532,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05095167611886279,"score_gpt":0.2728438076098536,"score_spread":0.2218921314909908,"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."}}