{"id":"W2061174284","doi":"10.1016/s0008-4182(06)80034-7","title":"Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation","year":2006,"lang":"en","type":"article","venue":"Canadian Journal of Ophthalmology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Stiftung für klinische Forschung zur Förderung der oralen Gesundheit; Ministry of Education, Culture, Sports, Science and Technology","keywords":"Dna testing; Atrophy; Mutation; Genetics; Medicine; Biology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"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":[0.0006414176,0.001811114,0.0008438287,0.003943443,0.002474702,0.0008635161,0.002165511,0.006468464,0.004978508],"category_scores_gemma":[0.00956677,0.0006061098,0.000742625,0.001188807,0.001514517,0.001055833,0.000815343,0.003030698,0.0007281142],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002647072,"about_ca_system_score_gemma":0.003078671,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02648007,"about_ca_topic_score_gemma":0.01353833,"domain_scores_codex":[0.9992456,0.0001149971,0.00008133863,0.0001099382,0.0002336322,0.000214449],"domain_scores_gemma":[0.9973646,0.001421988,0.000150558,0.00005873421,0.0002869169,0.0007172899],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004658394,0.0001852543,0.09045421,0.0001381222,0.00003687601,0.8768204,0.001017012,0.00105234,0.006606328,0.001460474,0.005583724,0.01617928],"study_design_scores_gemma":[0.0001200204,0.0004073329,0.06496312,0.0002707432,0.0001277991,0.9118559,0.001592969,0.006190663,0.005190165,0.003291731,0.005900776,0.0000887651],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9385486,0.004005256,0.003263652,0.03477759,0.0006675481,0.0002086501,0.0007144493,0.0002290465,0.01758529],"genre_scores_gemma":[0.9902129,0.001456039,0.0024372,0.002460128,0.0006629382,0.00004822704,0.0001925929,0.00003129601,0.002498667],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02648007,"threshold_uncertainty_score":0.05265188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02079443857414032,"score_gpt":0.2470377243487412,"score_spread":0.2262432857746009,"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."}}