{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004838029,0.0007259134,0.0008078542,0.003900252,0.0005442755,0.0007851177,0.0007919042,0.001443226,0.003936785],"category_scores_gemma":[0.002584132,0.0003061123,0.0005591092,0.001834241,0.0008906607,0.0006146342,0.0006222652,0.0007377217,0.0005152028],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002220866,"about_ca_system_score_gemma":0.0002316654,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000740276,"about_ca_topic_score_gemma":0.0009947143,"domain_scores_codex":[0.9991618,0.0001698641,0.0001360778,0.0002593458,0.0002029741,0.00006995964],"domain_scores_gemma":[0.9973736,0.001435422,0.0005474083,0.000147202,0.0002144855,0.0002818859],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004127046,0.0004610151,0.6212784,0.0002710143,0.0005575195,0.07014692,0.001462676,0.000868744,0.2698079,0.002009925,0.00074652,0.02826234],"study_design_scores_gemma":[0.0002417375,0.0004832202,0.8735286,0.00004924579,0.0004238944,0.1095398,0.0005462654,0.001370879,0.01028373,0.001701387,0.001773333,0.00005779929],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977689,0.0006155299,0.0005694928,0.0001391696,0.00002123752,0.000008407388,0.0001316157,0.00001540763,0.0007303679],"genre_scores_gemma":[0.9986904,0.0001406873,0.0006050051,0.00004657781,0.00006007232,0.000006448824,0.0001787882,0.00001435734,0.0002575394],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003936785,"threshold_uncertainty_score":0.01316988,"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."}}