{"id":"W1168264041","doi":"","title":"Determination of Phenotype Using Genetic Analysis in Hereditary Conditions With Incomplete Penetrance and Variable Expressivity: The Autosomal Dominant Optic Atrophy (ADOA) Story","year":2005,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Dalhousie University","funders":"","keywords":"Penetrance; Expressivity; Phenotype; Genetics; Atrophy; Biology; Gene","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":["sts"],"consensus_categories":[],"category_scores_codex":[0.0002831275,0.0001235754,0.0001670734,0.0001566911,0.0002361253,0.00001873518,0.0001942545,0.00005912022,0.00002126826],"category_scores_gemma":[0.000139257,0.00009469613,0.00003181665,0.0007240727,0.002798835,0.00003457037,0.00009325689,0.00007785582,6.586357e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003412534,"about_ca_system_score_gemma":0.0002990888,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007329827,"about_ca_topic_score_gemma":0.00001931842,"domain_scores_codex":[0.9988545,0.0001857686,0.0001841427,0.0003759522,0.000189791,0.0002098335],"domain_scores_gemma":[0.9993258,0.00004784807,0.0001579202,0.0001998175,0.000157893,0.0001106897],"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":[0.00004567607,0.00005744179,0.05469006,0.000007889934,0.00002372116,0.0000180972,0.0001413686,0.01121769,0.9336306,0.00005931911,0.00000162719,0.0001065281],"study_design_scores_gemma":[0.0004687933,0.0003238003,0.8482112,0.00002198668,0.0001074418,0.0001112642,0.0001268379,0.06018285,0.08988307,0.0003903014,0.000008642879,0.0001638117],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998674,0.000223719,0.0007077412,0.00009471387,0.00002820823,0.000168766,0.00001553409,0.000002897197,0.00008438955],"genre_scores_gemma":[0.9836587,0.000002312205,0.01616023,0.00008425662,0.00004005112,0.00001711557,0.00001181145,0.000006297712,0.00001919992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8437475,"threshold_uncertainty_score":0.999915,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01875440614259787,"score_gpt":0.299676190999456,"score_spread":0.2809217848568581,"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."}}