{"id":"W4404002069","doi":"10.1101/2024.10.31.24314716","title":"Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; Alberta Children's Hospital; University of Toronto; SickKids Foundation; University of British Columbia; Hospital for Sick Children","funders":"","keywords":"Neuroscience; Neurodevelopmental disorder; Transcription factor; Loss function; Function (biology); Animal behavior; Autism spectrum disorder; Psychology; Biology; Developmental psychology; Phenotype; Genetics; Autism; Gene","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":[0.00008091577,0.000447447,0.0002073836,0.0003100031,0.0002122785,0.0002321559,0.0001536683,0.000311819,0.001699175],"category_scores_gemma":[0.00009227028,0.000169646,0.0001390981,0.0001200908,0.0003019457,0.0001021597,0.0002846753,0.000289618,0.0003921374],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003742351,"about_ca_system_score_gemma":0.00018842,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001608227,"about_ca_topic_score_gemma":0.003203302,"domain_scores_codex":[0.9998873,0.000008980209,0.00001170451,0.00004140346,0.00003351803,0.00001704021],"domain_scores_gemma":[0.9999403,0.000006012729,0.00002788364,0.000005223685,0.000006188525,0.00001438385],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005358848,0.00001155742,0.001870684,0.00003636661,0.0000119746,0.0004222759,0.00001757642,0.0001465713,0.9945661,0.0001170682,0.0001428263,0.002603438],"study_design_scores_gemma":[0.00002265148,0.0001976167,0.08336033,0.00002670183,0.00007581064,0.0076921,0.0000842815,0.002943626,0.8981189,0.0001856491,0.0072782,0.00001411702],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9880311,0.001691849,0.005843585,0.0002174366,0.00002956242,0.00002601121,0.002000897,0.0002741203,0.001885437],"genre_scores_gemma":[0.9920368,0.0007886297,0.00251744,0.00008784977,0.000005370038,0.00002543949,0.0008387977,0.00004571328,0.003654004],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001699175,"threshold_uncertainty_score":0.005684316,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01170075051070397,"score_gpt":0.2529047080110131,"score_spread":0.2412039575003091,"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."}}