{"id":"W4319339826","doi":"10.1101/2023.02.07.527511","title":"A Cas9-fusion proximity-based approach generates an <i>Irak1-Mecp2</i> tandem duplication mouse model for the study of MeCP2 duplication syndrome","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Canadian Child Health Clinician Scientist Program","keywords":"MECP2; Gene duplication; CRISPR; Tandem exon duplication; Biology; Copy-number variation; Cas9; Genetics; Computational biology; Phenotype; Gene; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004627101,0.0008602041,0.0005466822,0.001551014,0.0004478054,0.0006022689,0.0007005155,0.001315467,0.004071536],"category_scores_gemma":[0.000210006,0.0004453604,0.0006251166,0.0004429935,0.0006718801,0.0004062641,0.000744996,0.001649024,0.001498983],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004897778,"about_ca_system_score_gemma":0.0003640411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009069852,"about_ca_topic_score_gemma":0.001351531,"domain_scores_codex":[0.9994736,0.00006854504,0.00006661891,0.0001573756,0.0001612649,0.00007259524],"domain_scores_gemma":[0.9996679,0.00005277543,0.0001021188,0.00004572641,0.00002632597,0.0001051981],"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":[0.0001088521,0.00004994893,0.0001353897,0.00003588332,0.00001280612,0.0002627706,0.00003275512,0.0001581473,0.9963894,0.001061485,0.0002989217,0.001453569],"study_design_scores_gemma":[0.00007445075,0.0002579213,0.001206675,0.00002226672,0.00004020586,0.001362487,0.0000361686,0.002197307,0.9830332,0.0002656795,0.01148425,0.0000194059],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8792369,0.001932835,0.09394516,0.001233248,0.0005868187,0.0005160944,0.009272547,0.002964347,0.01031191],"genre_scores_gemma":[0.895522,0.001436408,0.06397378,0.0003291128,0.00007670813,0.0006466295,0.004472358,0.0008239582,0.03271896],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004071536,"threshold_uncertainty_score":0.01362062,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02979291550282322,"score_gpt":0.2412583800015987,"score_spread":0.2114654644987755,"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."}}