{"id":"W2110290882","doi":"10.1136/jmedgenet-2011-100352","title":"Lessons from predictive testing for Huntington disease: 25 years on","year":2011,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Predictive testing; Genetic testing; Genetic counseling; Huntington's disease; Disease; Medicine; Risk assessment; Carrier testing; Test (biology); Diagnostic test; Predictive value; Computer science; Pathology; Pediatrics; Prenatal diagnosis; Biology; Internal medicine; Pregnancy; Genetics; Computer security","routes":{"ca_aff":true,"ca_fund":true,"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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.0003170574,0.0001520692,0.0002238419,0.00009622623,0.00008309289,0.0000318901,0.0006429083,0.00008159754,0.0001651063],"category_scores_gemma":[0.0103754,0.0001298001,0.0001414375,0.0001562413,0.0001788799,0.00004282964,0.00009771964,0.0002985685,0.00001309628],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002493086,"about_ca_system_score_gemma":0.0003889506,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003486081,"about_ca_topic_score_gemma":0.000001205451,"domain_scores_codex":[0.9974663,0.0001753717,0.000467262,0.0002929477,0.001321795,0.0002762785],"domain_scores_gemma":[0.9975816,0.000995032,0.0003631143,0.0002206501,0.000175738,0.0006638805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.003329042,0.005807239,0.1020204,0.0001900405,0.0002553252,0.001443016,0.004126978,0.00233126,0.5619014,0.003834576,0.0239099,0.2908508],"study_design_scores_gemma":[0.002243547,0.00213182,0.3526575,0.000373863,0.0002367086,0.00001630739,0.00012073,0.00444992,0.6279542,0.006281222,0.003203132,0.0003310423],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939385,0.0001920503,0.003591361,0.0007929765,0.0008441794,0.0001824802,0.0001148418,0.00001782283,0.000325807],"genre_scores_gemma":[0.993665,0.0001337921,0.003939954,0.00142121,0.0007599882,0.000008458296,0.000001374536,0.00003197651,0.00003823396],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2905198,"threshold_uncertainty_score":0.9979606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1174556324510234,"score_gpt":0.3345712193555088,"score_spread":0.2171155869044855,"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."}}