{"id":"W3198922389","doi":"","title":"A Novel Autosomal Dominant Retinal Dystrophy: Phenotypic description and Preliminary Genetic Investigations in a Pedigree.","year":2019,"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":"Hospital for Sick Children","funders":"","keywords":"Phenotype; Genetics; Biology; Retinal; Dystrophy; Evolutionary biology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004893725,0.003858077,0.001099638,0.002628887,0.002048516,0.0009236394,0.001523296,0.002352909,0.00337056],"category_scores_gemma":[0.003841496,0.001162624,0.0006610917,0.00197349,0.001734358,0.00075197,0.001650634,0.001891275,0.0006733384],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006452589,"about_ca_system_score_gemma":0.00085291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006147381,"about_ca_topic_score_gemma":0.004392868,"domain_scores_codex":[0.999005,0.0001604788,0.00009277489,0.0003952117,0.0002100277,0.0001364064],"domain_scores_gemma":[0.9979906,0.0007512704,0.0003504831,0.0001320099,0.000171002,0.0006046241],"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":[0.0001849924,0.0002904766,0.02623616,0.00008224999,0.00007094342,0.9531146,0.0009962901,0.0003820144,0.01093086,0.0009528141,0.001504729,0.005253771],"study_design_scores_gemma":[0.00005079583,0.0002560466,0.02851106,0.00003268952,0.00006194331,0.9672343,0.0002148649,0.0005956059,0.001060387,0.0004988323,0.0014475,0.00003595937],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9817047,0.001470099,0.007616065,0.001654426,0.0001859962,0.0002093309,0.001281697,0.00027523,0.005602516],"genre_scores_gemma":[0.9920133,0.0006169435,0.003925441,0.0003117871,0.0001743982,0.00005905435,0.0004528675,0.00005004632,0.00239618],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006147381,"threshold_uncertainty_score":0.01222318,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02121673241198695,"score_gpt":0.2802648261134729,"score_spread":0.259048093701486,"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."}}