{"id":"W2107716658","doi":"10.3109/13816810.2011.648364","title":"Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity","year":2012,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Ocular Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Disease gene identification; Anophthalmia; Genetics; Biology; Candidate gene; Locus (genetics); Runs of Homozygosity; Identity by descent; Single-nucleotide polymorphism; Genetic heterogeneity; Phenotype; Gene; Genotyping; Genotype; Exome sequencing; Haplotype; Microphthalmia","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001491053,0.0002432099,0.0002315131,0.00008871513,0.00007058401,0.00001760901,0.0002878669,0.0001777237,0.0001606695],"category_scores_gemma":[0.00005507301,0.000253576,0.0001171604,0.0001521558,0.000111833,0.000019821,0.0001545694,0.00008734557,0.00001626039],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002919226,"about_ca_system_score_gemma":0.00009509541,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003437718,"about_ca_topic_score_gemma":0.00005214106,"domain_scores_codex":[0.9984337,0.0001297065,0.0003522775,0.0004018274,0.0002352705,0.0004472336],"domain_scores_gemma":[0.9990137,0.00002332896,0.0001500323,0.0005583487,0.00009184872,0.0001627744],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003726223,0.0005605928,0.8142349,0.00007840547,0.00004579538,0.00001356331,0.0001093354,0.000162001,0.182525,0.000003342195,0.00008246884,0.002147383],"study_design_scores_gemma":[0.0005693487,0.0005497776,0.9238844,0.00009475378,0.00003419209,0.0002211413,0.000101009,0.0001403285,0.07341046,0.00007205877,0.0005762512,0.0003462988],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881043,0.01095329,0.000113336,0.00001140043,0.0001256784,0.0003265954,0.0001731576,0.000007201032,0.0001850196],"genre_scores_gemma":[0.9931312,0.0004238451,0.005796193,0.00002829003,0.0001752574,0.00005632969,0.0003017523,0.00003281065,0.00005427674],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1096495,"threshold_uncertainty_score":0.9999917,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04196431029967902,"score_gpt":0.3016356185487225,"score_spread":0.2596713082490434,"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."}}