{"id":"W1601026012","doi":"10.1002/humu.22848","title":"The Genomic Birthday Paradox: How Much Is Enough?","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Bundesministerium für Bildung und Forschung","keywords":"Biology; Mendelian inheritance; OMIM : Online Mendelian Inheritance in Man; Inheritance (genetic algorithm); Disease; Genetics; Computational biology; Genomics; Matching (statistics); Phenotype; Gene; Genome; Statistics","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001135573,0.00008360501,0.00005185927,0.00001632727,0.0001957984,0.00008246292,0.0001282544,0.00005215362,0.000007466705],"category_scores_gemma":[0.0000277927,0.00006387052,0.00005095575,0.00002842576,0.00004905059,0.000002675049,0.00004007099,0.00003219209,0.00003990825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001747937,"about_ca_system_score_gemma":0.0000638823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001158391,"about_ca_topic_score_gemma":0.0000296854,"domain_scores_codex":[0.9994781,0.00003428215,0.00008862146,0.0001750567,0.00008402757,0.0001398932],"domain_scores_gemma":[0.9995552,0.000005151192,0.00005943257,0.0002226857,0.0000826722,0.0000748517],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001858912,0.000174939,0.003364102,0.00003044316,0.0002203522,0.00004172892,0.00307746,0.0002313886,0.7803217,0.005686259,0.1911997,0.01546601],"study_design_scores_gemma":[0.002460308,0.0008326258,0.04587714,0.00001093649,0.00009008946,0.00008611238,0.004631542,0.000390112,0.1450728,0.01467017,0.7851002,0.0007778896],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965644,0.00131851,0.000155748,0.0008191977,0.0001363219,0.0001171093,0.00001466909,0.000009525006,0.0008644758],"genre_scores_gemma":[0.9970382,0.00006050893,0.00007337099,0.000320574,0.0002533406,0.00001688043,0.0001920541,0.00001554398,0.002029489],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6352488,"threshold_uncertainty_score":0.2604564,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02272776944646051,"score_gpt":0.264251300185446,"score_spread":0.2415235307389855,"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."}}