{"id":"W3201797647","doi":"10.1146/annurev-pharmtox-052120-084449","title":"Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies","year":2021,"lang":"en","type":"article","venue":"The Annual Review of Pharmacology and Toxicology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Tuberous sclerosis; Epilepsy; Precision medicine; Medicine; Encephalopathy; Pediatrics; Intellectual disability; Bioinformatics; Psychiatry; Pathology; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004402413,0.0001360927,0.0002782753,0.00002447416,0.0001143679,0.000002770835,0.0001225784,0.00008940723,0.0000685476],"category_scores_gemma":[0.0002189491,0.00009589685,0.00003919545,0.00007308944,0.0004780671,0.000004073841,0.0002290941,0.00007577559,0.000001058577],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003405773,"about_ca_system_score_gemma":0.00009946695,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":9.066431e-7,"about_ca_topic_score_gemma":0.000007836832,"domain_scores_codex":[0.9990138,0.0001837772,0.0002826928,0.0002842345,0.00005941614,0.0001760621],"domain_scores_gemma":[0.9995415,0.0001321659,0.0001008187,0.00008467408,0.0000952238,0.00004567043],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003990185,0.0002406916,0.002339106,0.003398293,0.0003011735,0.0000113128,0.001053297,0.000003906614,0.8473693,0.0006867207,0.04633646,0.09786072],"study_design_scores_gemma":[0.004718189,0.003300345,0.07362233,0.001066851,0.0007100865,0.001402472,0.002907435,0.00005959615,0.3673707,0.001949623,0.5421286,0.0007638186],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8623936,0.1315918,0.0001425749,0.004496515,0.0002218881,0.0005507193,0.00005086974,0.000003890457,0.000548193],"genre_scores_gemma":[0.8252373,0.168555,0.0006049096,0.005223623,0.00003392925,0.00009155911,0.00007314577,0.000009110054,0.0001714054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4957921,"threshold_uncertainty_score":0.391056,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02155088194838613,"score_gpt":0.3049846492320589,"score_spread":0.2834337672836728,"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."}}