{"id":"W4396915880","doi":"10.2139/ssrn.4828020","title":"De novo Variants Disrupt an LDB1-Regulated Transcriptional Network in Congenital Ventriculomegaly","year":2024,"lang":"en","type":"preprint","venue":"SSRN Electronic Journal","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"","keywords":"Ventriculomegaly; Genetics; Computational biology; Biology; Pregnancy; Fetus","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":[0.0002087616,0.0005841826,0.0004424993,0.0005982447,0.0004001019,0.0005322699,0.0005668019,0.001289229,0.005822322],"category_scores_gemma":[0.001015553,0.0002498535,0.0005179763,0.000476576,0.0005882902,0.0001563927,0.0004987277,0.001089539,0.001280756],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002817022,"about_ca_system_score_gemma":0.0002688386,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001013471,"about_ca_topic_score_gemma":0.001438888,"domain_scores_codex":[0.9995617,0.00007012294,0.00004401178,0.0001606678,0.0001166576,0.00004683055],"domain_scores_gemma":[0.9993369,0.0002749564,0.0001747929,0.00006930849,0.00002121055,0.000122843],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001207413,0.000143328,0.0232152,0.00020172,0.0003134024,0.02117862,0.0003950696,0.004716418,0.926384,0.002963794,0.001899044,0.0173821],"study_design_scores_gemma":[0.0004976005,0.0007693823,0.4303258,0.0004733667,0.0008894427,0.0810998,0.0007778431,0.01958844,0.4269219,0.008164294,0.03029254,0.0001995641],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859145,0.0007994734,0.007038856,0.000394494,0.000209093,0.00002891344,0.002592219,0.0003142557,0.00270818],"genre_scores_gemma":[0.9959389,0.0001554045,0.00161312,0.0001467148,0.00005252935,0.00001773927,0.000953773,0.0001561957,0.000965696],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005822322,"threshold_uncertainty_score":0.01947767,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0111260767046436,"score_gpt":0.2580419738139962,"score_spread":0.2469158971093526,"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."}}