{"id":"W1839737487","doi":"","title":"Panel-based Next Generation Sequencing improves mutation detection in Cone Rod Dystrophy patients","year":2015,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Cone (formal languages); DNA sequencing; Mutation; Medicine; Computer science; Genetics; Biology; Algorithm; DNA; 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":[],"consensus_categories":[],"category_scores_codex":[0.000470039,0.0001559134,0.0001205836,0.0001514437,0.000145671,0.00005256637,0.0001746159,0.0001168065,0.000003854941],"category_scores_gemma":[0.000756882,0.0001515228,0.00002529691,0.0004889492,0.0009263955,0.00005058844,0.00006858536,0.00009389674,0.00001204505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001552169,"about_ca_system_score_gemma":0.0006617982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001466864,"about_ca_topic_score_gemma":0.00002950691,"domain_scores_codex":[0.9985625,0.0001372028,0.0002403719,0.0005012407,0.0002611431,0.0002975874],"domain_scores_gemma":[0.9992443,0.0000124181,0.0001384301,0.0001190755,0.0003217466,0.0001640726],"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":[0.00004422945,0.00004185104,0.02217124,0.000003878863,0.000003212293,0.00001047612,0.0002064244,0.0003447785,0.9761541,0.000004193024,0.000007825636,0.001007775],"study_design_scores_gemma":[0.0007013677,0.001053105,0.07211434,0.000008674624,0.000003897524,0.00001494466,0.0002632793,0.005998558,0.9191896,0.0004501101,0.00001328235,0.0001888846],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989061,0.00003840082,0.0001366898,0.00005144842,0.0002715761,0.0002520506,0.000001646297,0.00001010068,0.0003320133],"genre_scores_gemma":[0.9984983,0.000001220546,0.001107235,0.0001633081,0.00005742433,0.00004356681,0.00009095512,0.000009682778,0.00002837343],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05696456,"threshold_uncertainty_score":0.617892,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07408064132477163,"score_gpt":0.3069423378804159,"score_spread":0.2328616965556442,"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."}}