{"id":"W2021128111","doi":"10.1002/humu.10194","title":"RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution","year":2003,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":170,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Children’s Hospital of Wisconsin Research Institute; McGill University","keywords":"Rett syndrome; MECP2; Database; Biology; Computer science; Bioinformatics; Genetics; Phenotype; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003141875,0.0001257661,0.00006764064,0.00007235656,0.0001516551,0.00003459725,0.0001054396,0.00006696292,0.0000565596],"category_scores_gemma":[0.0001538556,0.0001180299,0.00002989713,0.0001771977,0.00002949866,0.00001674439,0.00003122498,0.00008341264,0.00002175013],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004293828,"about_ca_system_score_gemma":0.0001221262,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001777411,"about_ca_topic_score_gemma":0.0007930244,"domain_scores_codex":[0.9989421,0.0001497605,0.0002376569,0.0003251252,0.0001743728,0.0001709907],"domain_scores_gemma":[0.9995115,0.00001225141,0.0001009509,0.0002820192,0.00004829949,0.00004495249],"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":[0.00003381427,0.00008520168,0.001061443,0.00001905409,0.0000157359,0.000006403434,0.0003833389,0.001408498,0.9864805,0.006351564,0.002982634,0.001171853],"study_design_scores_gemma":[0.004770979,0.0004928603,0.7449663,0.00007439835,0.00008785891,0.00007325187,0.001143575,0.002172172,0.218325,0.01112448,0.01582842,0.0009407547],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9689652,0.0003448973,0.02876832,0.0001849014,0.0001701144,0.0003738831,0.00002035604,0.00001268726,0.001159638],"genre_scores_gemma":[0.9960543,0.00003806654,0.001401441,0.000222237,0.00003362889,0.00002769052,0.001834112,0.00001842478,0.0003701299],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7681555,"threshold_uncertainty_score":0.4813119,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01602565224964236,"score_gpt":0.2584316543761275,"score_spread":0.2424060021264851,"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."}}