{"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":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.0003524055,0.0002890795,0.0004539087,0.000198718,0.0006588671,0.00007982514,0.00103563,0.0002009594,0.00003136253],"category_scores_gemma":[0.0005193303,0.00024276,0.0001262288,0.000526107,0.009711684,0.00003125669,0.0004828469,0.0001615108,0.000003061889],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000230208,"about_ca_system_score_gemma":0.000349645,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001241342,"about_ca_topic_score_gemma":0.0001510955,"domain_scores_codex":[0.9977966,0.0001590655,0.0003145595,0.0009178178,0.0002925107,0.000519449],"domain_scores_gemma":[0.9979553,0.00004124993,0.0005248386,0.0007815274,0.0004378138,0.0002592237],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008887824,0.00006755655,0.2079261,0.000004094047,0.0003564202,0.0001002864,0.000150312,0.00005086834,0.790931,0.00003723125,0.00001439387,0.0002729061],"study_design_scores_gemma":[0.000281026,0.00108844,0.4161404,0.000008208801,0.0002039737,0.00007383771,0.0002554627,0.0001855079,0.5814003,0.00004869061,0.00007562232,0.0002385307],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998288,0.0002711379,0.0001424738,0.0001326004,0.00007610095,0.0001894706,0.0001300776,0.000009608862,0.0007605643],"genre_scores_gemma":[0.9981461,0.00001553045,0.001452053,0.0001413367,0.00003248981,0.00002103296,0.00009856019,0.0000151804,0.00007767921],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2095307,"threshold_uncertainty_score":0.9929833,"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."}}