{"id":"W4392607073","doi":"10.1016/j.gimo.2024.101733","title":"P822: Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Computational biology; Genetics; Biology; Computer science; Evolutionary 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":[0.0007421154,0.0002070146,0.0002693593,0.00005836877,0.0000744606,0.00005262222,0.0003339943,0.00008824435,0.000009913352],"category_scores_gemma":[0.0003171738,0.0001657394,0.00003994527,0.0001361156,0.0001317605,0.000004170693,0.0005037542,0.0002033724,8.854071e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000308015,"about_ca_system_score_gemma":0.0001223533,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001040542,"about_ca_topic_score_gemma":0.00003321182,"domain_scores_codex":[0.9986192,0.000146327,0.0003672866,0.0004874412,0.00011559,0.0002641855],"domain_scores_gemma":[0.9993698,0.0001282387,0.0000817613,0.0002945679,0.00002924892,0.00009637688],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001430283,0.00009791261,0.5613664,0.0009122305,0.0001950882,0.0001424283,0.002343629,0.003398689,0.2995753,0.0000729185,0.00006104491,0.1316913],"study_design_scores_gemma":[0.00357054,0.00271088,0.8826839,0.004089992,0.0001628938,0.0003201825,0.0007516561,0.01179199,0.08699931,0.002334269,0.003612284,0.0009720348],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951925,0.003157444,0.0004363567,0.00005665856,0.0001842476,0.0005484903,0.00002522805,0.000008891936,0.0003901428],"genre_scores_gemma":[0.9968202,0.0006075338,0.002207082,0.0001334067,0.0001311217,0.00003930697,0.00002393007,0.00002851823,0.000008899094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3213175,"threshold_uncertainty_score":0.6758655,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01349286058281617,"score_gpt":0.288962834751423,"score_spread":0.2754699741686069,"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."}}