{"id":"W1574664953","doi":"10.1016/j.ophtha.2012.12.005","title":"Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction","year":2013,"lang":"en","type":"article","venue":"Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Genetics; Missense mutation; Disease gene identification; Uniparental disomy; Medicine; Retinitis pigmentosa; Mutation; Single-nucleotide polymorphism; Ophthalmology; Biology; Chromosome; Retinal; Genotype; Exome sequencing; 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":[0.00006910863,0.0001150464,0.0001791849,0.00005847997,0.00002284356,0.000005195551,0.0001070518,0.0001402231,0.0005529717],"category_scores_gemma":[0.00004048174,0.0001102721,0.00005661097,0.00007364195,0.0001230628,0.000007524585,0.00006123819,0.00004216144,0.00004011509],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008558522,"about_ca_system_score_gemma":0.00005006687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004220463,"about_ca_topic_score_gemma":0.000002368073,"domain_scores_codex":[0.9992172,0.00003676199,0.0002871506,0.0002046076,0.00009602871,0.0001582264],"domain_scores_gemma":[0.999482,0.000009698827,0.0001832326,0.000155821,0.0001259224,0.00004331585],"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":[0.0001270365,0.0001115911,0.1137697,0.00004640979,0.00006790425,0.00001119465,0.00004634511,0.00001098426,0.8852085,0.0001810583,0.0002580513,0.0001611408],"study_design_scores_gemma":[0.001622268,0.001276289,0.5449544,0.00002800668,0.0000312848,0.001917443,0.0002255104,0.00002709435,0.4484992,0.0009793185,0.0002099796,0.0002292952],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955506,0.0001055476,0.0001673746,0.00004782375,0.0001509737,0.0002126257,0.00001406262,0.000003849889,0.003747198],"genre_scores_gemma":[0.99801,0.00001584248,0.0004185796,0.0000307692,0.00003201029,0.00003298578,0.0002161848,0.00001253111,0.0012311],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4367094,"threshold_uncertainty_score":0.6054652,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01294478730580603,"score_gpt":0.2584902883164296,"score_spread":0.2455455010106236,"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."}}