{"id":"W2511515754","doi":"10.1038/ng.3643","title":"A reference panel of 64,976 haplotypes for genotype imputation","year":2016,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3273,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; University of Toronto; Centre for Addiction and Mental Health","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute on Drug Abuse; National Eye Institute; National Institute on Aging; National Cancer Institute; British Heart Foundation; National Institute on Alcohol Abuse and Alcoholism; National Heart, Lung, and Blood Institute; National Institute of Mental Health; Versus Arthritis; Medical Research Council; National Institutes of Health; Canadian Institutes of Health Research; National Institute of General Medical Sciences; National Institute for Health and Care Research; National Human Genome Research Institute; Wellcome Trust","keywords":"Imputation (statistics); Biology; Haplotype; Single-nucleotide polymorphism; Minor allele frequency; Genetics; 1000 Genomes Project; Genotype; Genome-wide association study; Genetic association; Allele frequency; Haplotype estimation; Computational biology; Missing data; Gene; Statistics; Mathematics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006379827,0.0009618212,0.001900916,0.00357741,0.0009734167,0.001545742,0.001727094,0.001510636,0.03402873],"category_scores_gemma":[0.01640102,0.0008938871,0.001331202,0.006110421,0.0002533305,0.0007321132,0.001013234,0.001537392,0.02094662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000318529,"about_ca_system_score_gemma":0.002037574,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006647231,"about_ca_topic_score_gemma":0.008089233,"domain_scores_codex":[0.9969251,0.0009894243,0.0004090827,0.0009901327,0.0005087015,0.0001776306],"domain_scores_gemma":[0.9927389,0.001851953,0.0004224069,0.003076573,0.00168025,0.0002299144],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002772889,0.0009302549,0.1296759,0.001651996,0.004042144,0.001909836,0.001078937,0.0166074,0.03959428,0.008408862,0.3270715,0.466256],"study_design_scores_gemma":[0.002521774,0.000816069,0.3266461,0.001528963,0.004152051,0.005253151,0.000416756,0.01938734,0.01457067,0.02594325,0.5984801,0.000283906],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.1129302,0.003745502,0.2694442,0.0009434028,0.0005583888,0.001194967,0.5881022,0.004081235,0.01899996],"genre_scores_gemma":[0.1548322,0.001307231,0.1356547,0.0008171925,0.0001756891,0.00185797,0.6925998,0.0008426193,0.01191254],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.03402873,"threshold_uncertainty_score":0.1138375,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02174005727964357,"score_gpt":0.2946708452845418,"score_spread":0.2729307880048982,"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."}}