{"id":"W3113794034","doi":"10.1097/brs.0000000000003879","title":"The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients","year":2020,"lang":"en","type":"article","venue":"Spine","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Sotos syndrome; Scoliosis; Medicine; Haploinsufficiency; Pediatrics; Genetics; Phenotype; Gene; Biology; Surgery","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":[0.0004581528,0.0003294773,0.0003887246,0.001041298,0.0004354448,0.0003119846,0.0002223688,0.0005357271,0.002587351],"category_scores_gemma":[0.001408364,0.0002622873,0.0003020836,0.0007281514,0.0003598567,0.0003440951,0.0003715871,0.0002407691,0.0003579098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000187677,"about_ca_system_score_gemma":0.0002637423,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009002999,"about_ca_topic_score_gemma":0.0008105001,"domain_scores_codex":[0.9994786,0.0001186876,0.00006317835,0.000181121,0.00008223673,0.00007617327],"domain_scores_gemma":[0.9989439,0.0002812342,0.0003558011,0.00008338737,0.0001229975,0.0002126577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001823626,0.00003645089,0.9972486,0.00001068262,0.00002537633,0.0008770248,0.00008977534,0.00002360518,0.0005746975,0.00001696277,0.00003146441,0.0008829745],"study_design_scores_gemma":[0.00005060203,0.001038643,0.9838665,0.00001088624,0.00006198743,0.01351259,0.0004645743,0.0001813358,0.0002932303,0.00003209646,0.0004769374,0.0000107523],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996303,0.00008282808,0.00005326725,0.000004900309,0.000001454923,0.000007904508,0.00005642844,0.00000148022,0.0001613942],"genre_scores_gemma":[0.9996395,0.00004680169,0.00006285543,0.00001196452,0.000005587767,0.00001887813,0.0001589526,0.00000104506,0.00005450017],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002587351,"threshold_uncertainty_score":0.008655548,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005035252808327655,"score_gpt":0.2024746412739306,"score_spread":0.197439388465603,"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."}}