{"id":"W2605478502","doi":"10.1167/iovs.17-21469","title":"<b>Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening</b>","year":2017,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Eye Institute; Canadian Centre for Applied Research in Cancer Control","keywords":"Disease gene identification; Genetics; Candidate gene; Biology; Genetic linkage; Consanguinity; Genetic analysis; Runs of Homozygosity; Population; Missense mutation; Gene; Mutation; Medicine; Genotype; Exome sequencing; Single-nucleotide polymorphism","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002252427,0.0004191361,0.0001557034,0.00176943,0.0005089751,0.0002536108,0.0002004742,0.0003150645,0.00204225],"category_scores_gemma":[0.0008201625,0.0001511265,0.0001963471,0.0006008873,0.0003721157,0.0001089341,0.000217178,0.0002312389,0.0002481645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002906373,"about_ca_system_score_gemma":0.0003829766,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004993572,"about_ca_topic_score_gemma":0.003469968,"domain_scores_codex":[0.9997739,0.00003969058,0.00002892862,0.00005643848,0.00005709396,0.00004393145],"domain_scores_gemma":[0.9996786,0.0001072055,0.0001024103,0.00001392232,0.00004183414,0.00005606019],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006242858,0.0001348151,0.8902757,0.0001366479,0.00006865386,0.01433929,0.0004257479,0.0003192091,0.06892931,0.000268135,0.0007944055,0.02368368],"study_design_scores_gemma":[0.00006613107,0.0002548354,0.936698,0.00003211428,0.00007255648,0.04456728,0.0003762417,0.0009028061,0.01520466,0.0001389748,0.001669696,0.00001672183],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985533,0.0001753918,0.0003521598,0.00005531975,0.000004400494,0.00001608977,0.0001988616,0.0000116019,0.0006328257],"genre_scores_gemma":[0.9986577,0.0001544251,0.000833135,0.00003216536,0.000006545262,0.0000105283,0.0001707473,0.000002407546,0.000132415],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004993572,"threshold_uncertainty_score":0.009929001,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01947547917659302,"score_gpt":0.3140076497351702,"score_spread":0.2945321705585772,"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."}}