{"id":"W2989440251","doi":"10.1093/bib/bbz108","title":"Genotype imputation and reference panel: a systematic evaluation on haplotype size and diversity","year":2019,"lang":"en","type":"article","venue":"Briefings in Bioinformatics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital","funders":"Natural Science Foundation of Zhejiang Province; National Natural Science Foundation of China","keywords":"Imputation (statistics); Minor allele frequency; Population; Sample size determination; Haplotype; Statistics; 1000 Genomes Project; Genetics; Allele frequency; Biology; Missing data; Allele; Genotype; Mathematics; Single-nucleotide polymorphism; Medicine; Environmental health","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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.1194642,0.001673793,0.003392193,0.003214468,0.001125635,0.002106318,0.002749302,0.001271295,0.002773986],"category_scores_gemma":[0.1989571,0.0010826,0.00482588,0.006312973,0.0009339516,0.00267875,0.002014667,0.00190463,0.0009123372],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006955227,"about_ca_system_score_gemma":0.002940923,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002655101,"about_ca_topic_score_gemma":0.003563438,"domain_scores_codex":[0.9231135,0.05358668,0.007142777,0.009772203,0.005929125,0.0004556259],"domain_scores_gemma":[0.8290571,0.1197761,0.00683267,0.02694157,0.01666475,0.0007277526],"domain_codex":null,"domain_gemma":"methods","domain_candidate":"methods","domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002838417,0.0002432407,0.2097913,0.008349269,0.02284948,0.0005064406,0.001221972,0.03581388,0.004328863,0.004169802,0.01679892,0.6930884],"study_design_scores_gemma":[0.005189351,0.00451144,0.3399018,0.009545183,0.09788615,0.007245329,0.001196454,0.353615,0.03507046,0.03017881,0.1142754,0.001384607],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.110247,0.04125097,0.825768,0.001113781,0.0005233565,0.002074724,0.01218679,0.003308108,0.003527344],"genre_scores_gemma":[0.4262512,0.0105376,0.5327253,0.001328303,0.0002648752,0.002590456,0.02384759,0.001367228,0.00108739],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.8805358,"threshold_uncertainty_score":0.6317947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02665397938933341,"score_gpt":0.2602573282323055,"score_spread":0.2336033488429721,"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."}}