{"id":"W2922257230","doi":"10.1101/563866","title":"Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":423,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; University of British Columbia","funders":"National Heart, Lung, and Blood Institute","keywords":"Imputation (statistics); Biology; Genetics; 1000 Genomes Project; Genome; Genomics; Whole genome sequencing; Haplotype; Structural variation; Genome-wide association study; Computational biology; Precision medicine; DNA sequencing; Single-nucleotide polymorphism; Genotype; Gene; Computer science; Missing data","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000635155,0.0003802345,0.0005259118,0.00005323789,0.0001168463,0.00004765271,0.0007418539,0.0007120998,0.00003400302],"category_scores_gemma":[0.0004016084,0.0003230893,0.0002431816,0.0001423006,0.0001619225,0.000004086165,0.0008758262,0.00039033,0.00003048966],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001082158,"about_ca_system_score_gemma":0.0006779336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003322895,"about_ca_topic_score_gemma":0.00001955895,"domain_scores_codex":[0.9977587,0.0002595698,0.0005341109,0.0007982501,0.0002016863,0.0004476758],"domain_scores_gemma":[0.9973633,0.0000855121,0.0006019286,0.001474214,0.0003655473,0.0001094513],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00002759372,0.00009061714,0.1973553,0.00008834797,0.0005468895,0.000004080859,0.00002461278,0.000666664,0.7991515,0.00005606488,0.001953713,0.00003466185],"study_design_scores_gemma":[0.00085745,0.0002574066,0.7463713,0.0001850109,0.0003531972,2.131442e-8,0.00006481837,0.0007501666,0.2080954,0.00001246654,0.04200718,0.001045654],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993363,0.003327735,0.0007886401,0.0002317498,0.0008679222,0.0008531145,0.0004850292,0.00005427577,0.00002856272],"genre_scores_gemma":[0.9887998,0.0009519744,0.009093685,0.0003011675,0.0006121508,0.0001502943,0.000008899174,0.00006174578,0.00002032386],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.591056,"threshold_uncertainty_score":0.9999221,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01898156326133077,"score_gpt":0.2397284785358168,"score_spread":0.220746915274486,"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."}}