{"id":"W2090389456","doi":"10.1016/j.ajhg.2009.06.016","title":"Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders","year":2009,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":215,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"National Institute for Health and Care Research","keywords":"Missense mutation; Genetics; Frameshift mutation; Proband; Visual phototransduction; Biology; Exon; Gene; Mutation; Retinal; Biochemistry","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":[0.0001782886,0.0001315357,0.0002001843,0.00008408178,0.0001065186,0.00002458564,0.0002634794,0.00002483894,0.000009265704],"category_scores_gemma":[0.00002210385,0.000094023,0.00006289596,0.0001835817,0.0002438791,0.000005058413,0.00002688792,0.0001265368,0.000001886511],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001711204,"about_ca_system_score_gemma":0.00005226661,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009569975,"about_ca_topic_score_gemma":0.00002080753,"domain_scores_codex":[0.9990701,0.00009811519,0.0003104998,0.000124347,0.0001992026,0.0001977008],"domain_scores_gemma":[0.9992316,0.00001334459,0.0003968762,0.0001739112,0.0001184385,0.00006587589],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003583889,0.0001988968,0.9771288,0.000003204168,0.00006800161,0.000002164918,0.0007413213,0.0001387592,0.01311494,0.000005150151,0.0005621061,0.007678286],"study_design_scores_gemma":[0.0008764638,0.002444377,0.9943184,0.00002280115,0.00001962792,0.000004683412,0.000399753,0.000001784251,0.00108018,0.0003417361,0.0003390268,0.0001512198],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990686,0.000166422,0.0002163408,0.0001957812,0.00003231442,0.0001421277,0.00000438862,0.000002522634,0.0001715682],"genre_scores_gemma":[0.9984173,0.00012941,0.001036329,0.0002917894,0.0000420656,0.000001770263,0.00001745576,0.00001200245,0.00005190411],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01718956,"threshold_uncertainty_score":0.3834147,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005243997638367787,"score_gpt":0.226919246640178,"score_spread":0.2216752490018102,"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."}}