{"id":"W2588638897","doi":"10.1167/iovs.16-20281","title":"The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families","year":2017,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal and Macular Surgery","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill Genome Centre; McGill University Health Centre","funders":"National Eye Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research","keywords":"Genetics; Biology; Retinal; Exome sequencing; Genotyping; Phenotype; Gene; Disease gene identification; Genetic heterogeneity; Pedigree chart; Candidate gene; Genotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002513682,0.0008140213,0.0002879342,0.001210547,0.0009421352,0.0002655734,0.0002842078,0.0004463751,0.002843544],"category_scores_gemma":[0.001112918,0.0002171026,0.0002401782,0.0007580576,0.0005687174,0.0001934711,0.0004299835,0.0002499619,0.000219467],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000319315,"about_ca_system_score_gemma":0.0003330987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00408933,"about_ca_topic_score_gemma":0.003756887,"domain_scores_codex":[0.9996498,0.00006623083,0.00003725946,0.000114459,0.00007729822,0.00005488263],"domain_scores_gemma":[0.9995232,0.0001642041,0.000126201,0.00002732893,0.00005825108,0.0001008368],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002846491,0.0001824745,0.9521831,0.00005072945,0.00006917559,0.02773937,0.001483533,0.000200218,0.009624423,0.0001841412,0.0003370843,0.007661036],"study_design_scores_gemma":[0.00002688918,0.0003263444,0.9384469,0.00002119928,0.00004552866,0.05807983,0.0008381356,0.0003307512,0.001142453,0.00006666017,0.0006619237,0.00001325456],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994404,0.00005540782,0.00007188256,0.00001977002,0.000001904768,0.000007786954,0.0001071175,0.000002127029,0.0002937171],"genre_scores_gemma":[0.9995103,0.00007205644,0.0001708906,0.00001944265,0.000004688781,0.000006240376,0.0001154998,0.000001936197,0.00009894268],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00408933,"threshold_uncertainty_score":0.009512544,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03949616553812958,"score_gpt":0.3485356521642803,"score_spread":0.3090394866261507,"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."}}