{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002208533,0.0006780883,0.0008588507,0.004751085,0.0004744229,0.00192995,0.002039302,0.0009327368,0.009100276],"category_scores_gemma":[0.007621322,0.0003938869,0.0005553727,0.005211597,0.0002731763,0.002051622,0.002336158,0.001037529,0.006880578],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005909554,"about_ca_system_score_gemma":0.001558979,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003741337,"about_ca_topic_score_gemma":0.003772264,"domain_scores_codex":[0.9988796,0.0001524848,0.0003214079,0.0002362672,0.000341131,0.00006905778],"domain_scores_gemma":[0.9970047,0.0006860658,0.0005326988,0.000493206,0.0006786406,0.0006047406],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001918637,0.0001700214,0.03012358,0.004589026,0.0004780014,0.00188793,0.001205585,0.002650676,0.02670026,0.01040994,0.5028947,0.4169717],"study_design_scores_gemma":[0.0001667988,0.00009585852,0.02552476,0.0004069885,0.0001635491,0.001401993,0.0001366331,0.002719843,0.005223935,0.003226161,0.9608462,0.00008741355],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.04780119,0.0102358,0.05694532,0.002690626,0.0005307731,0.0004624238,0.8225203,0.03531372,0.02349989],"genre_scores_gemma":[0.03164402,0.002929452,0.06297011,0.0008277173,0.0001254085,0.0003101966,0.8922825,0.003529669,0.005380974],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.009100276,"threshold_uncertainty_score":0.03044349,"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."}}