{"id":"W4399752222","doi":"10.1242/dmm.050528","title":"An <i>Irak1-Mecp2</i> tandem duplication mouse model for the study of <i>MECP2</i> duplication syndrome","year":2024,"lang":"en","type":"article","venue":"Disease Models & Mechanisms","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Ontario Ministry of Health and Long-Term Care; Canadian Child Health Clinician Scientist Program","keywords":"MECP2; Gene duplication; Tandem exon duplication; Biology; CRISPR; Copy-number variation; Rett syndrome; Genetics; Gene; Cancer research; Genome; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002015702,0.0002280378,0.0001495499,0.00005254351,0.000161793,0.00006476542,0.0003926589,0.00008266794,0.000003968351],"category_scores_gemma":[0.00001045863,0.0001906879,0.000123796,0.0001214701,0.00003173903,0.00001808856,0.00009401072,0.00006324914,0.00000301623],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001524211,"about_ca_system_score_gemma":0.0001280968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008921802,"about_ca_topic_score_gemma":0.00002058292,"domain_scores_codex":[0.9985059,0.00003812949,0.0003027592,0.0006523907,0.0002613314,0.0002394388],"domain_scores_gemma":[0.9989201,0.00001487919,0.00007549747,0.0007275333,0.0001125777,0.0001493918],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0001457562,0.0008126107,0.00002755253,0.00007982611,0.0001178789,0.000001680135,0.0003983995,0.1140931,0.8750488,0.007441327,0.0002896477,0.001543328],"study_design_scores_gemma":[0.0006156819,0.0005220993,0.0003573767,0.00001302306,0.0001878021,0.000002450341,0.0003630425,0.9309388,0.04873392,0.01787048,0.0000915309,0.0003037869],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.55942,0.0004953242,0.4386548,0.0001112231,0.00006627452,0.001065686,0.0001334038,0.00003306955,0.00002025049],"genre_scores_gemma":[0.9967211,0.000258649,0.001090778,0.0003063357,0.00001751284,0.0008872576,0.0003183005,0.00006900028,0.0003310666],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8263149,"threshold_uncertainty_score":0.7776027,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01907596196004142,"score_gpt":0.259768009737227,"score_spread":0.2406920477771856,"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."}}