{"id":"W4394049905","doi":"10.5281/zenodo.8091569","title":"Data files for manuscript \"Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals\"","year":2023,"lang":"en","type":"dataset","venue":"Zenodo (CERN European Organization for Nuclear Research)","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Cohort; Medicine; Psychology; Computational biology; Computer science; Biology; Internal medicine","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.002785355,0.001757013,0.002037767,0.003333948,0.002185108,0.003177024,0.003426509,0.002452999,0.7937413],"category_scores_gemma":[0.02859514,0.001498407,0.001396585,0.00579241,0.0006606064,0.002923259,0.002789394,0.002137357,0.4045138],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001909029,"about_ca_system_score_gemma":0.003551671,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008353061,"about_ca_topic_score_gemma":0.00802727,"domain_scores_codex":[0.9974821,0.0002571802,0.0005182525,0.00057572,0.0008752818,0.0002915407],"domain_scores_gemma":[0.9787533,0.009115882,0.001925056,0.002986858,0.005754691,0.00146412],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000312577,0.00003998643,0.001003716,0.0007712832,0.00002531739,0.00007314501,0.00004096752,0.00008546527,0.0003363449,0.0004366072,0.9920154,0.004859223],"study_design_scores_gemma":[0.001924629,0.0001848646,0.015027,0.001501269,0.00008774584,0.0006366903,0.000262259,0.0003876699,0.002132282,0.004602232,0.973132,0.0001213401],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.0001813963,0.00003762982,0.000329491,0.0003629634,0.0001414026,0.0001227877,0.9958059,0.0008746625,0.002143783],"genre_scores_gemma":[0.002260349,0.0001794982,0.002209244,0.001006041,0.0001916994,0.001199726,0.9805862,0.002012676,0.01035458],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.7937413,"threshold_uncertainty_score":0.2942029,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05820457746521798,"score_gpt":0.3158500492247058,"score_spread":0.2576454717594879,"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."}}