{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0231628,0.0004418132,0.00153506,0.0009000804,0.001780863,0.003000677,0.002277522,0.003094416,0.003319489],"category_scores_gemma":[0.1329488,0.0005051464,0.0008866577,0.001458143,0.004792592,0.008134829,0.002491756,0.003246929,0.0004044624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001679889,"about_ca_system_score_gemma":0.002000493,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004353659,"about_ca_topic_score_gemma":0.003049046,"domain_scores_codex":[0.9899367,0.007147334,0.0002373129,0.0009152352,0.00132043,0.0004429333],"domain_scores_gemma":[0.897233,0.09016221,0.003191637,0.005081677,0.002001104,0.002330413],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.002717221,0.001139389,0.110507,0.0007309651,0.0005326543,0.002562436,0.003513498,0.3786132,0.002903361,0.3426324,0.02566371,0.1284842],"study_design_scores_gemma":[0.0003310608,0.0004525852,0.00660509,0.0001437507,0.0001088287,0.001369967,0.002346926,0.3854606,0.002371814,0.5918577,0.008831251,0.0001203451],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6973909,0.003930368,0.2130507,0.068912,0.0005738038,0.0003008725,0.0008450915,0.000551185,0.01444503],"genre_scores_gemma":[0.9588271,0.0007019466,0.03649682,0.002667375,0.0001266633,0.0001040553,0.0002657122,0.00008003953,0.0007302149],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0231628,"threshold_uncertainty_score":0.122498,"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."}}