{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009489569,0.00004490401,0.00006706138,0.00001009072,0.00002679622,0.000008109046,0.00005084057,0.00004843673,0.000001389128],"category_scores_gemma":[0.0001375923,0.00003834516,0.00002061061,0.00006233744,0.00001163672,0.000001251199,0.00006105121,0.0000286957,0.000001433581],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007015579,"about_ca_system_score_gemma":0.000009914181,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009224612,"about_ca_topic_score_gemma":0.00000953273,"domain_scores_codex":[0.9995697,0.00002075652,0.0001322482,0.0001112478,0.00006975869,0.00009626793],"domain_scores_gemma":[0.9997905,0.000002522863,0.00007470695,0.00006740663,0.00003900802,0.00002584218],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000008643712,0.00003278693,0.5688971,0.00003199083,0.0000308839,4.317145e-7,0.00006557794,0.00003939929,0.4221668,0.00001257861,0.00009232457,0.008621476],"study_design_scores_gemma":[0.0004683636,0.000272676,0.9590436,0.00001003082,0.000005819441,0.000001620093,0.00001731702,0.0001235316,0.03870988,0.000006345271,0.001288868,0.00005189784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990477,0.0002844206,0.00006340152,0.0003923664,0.00003642555,0.0001086659,0.000002442936,0.000001798151,0.00006276908],"genre_scores_gemma":[0.9994103,0.0002102367,0.0001945311,0.0001108608,0.00002254875,0.000005975705,0.00001184715,0.000005365305,0.0000283495],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3901465,"threshold_uncertainty_score":0.156367,"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."}}