{"id":"W1907868928","doi":"10.1038/nature14962","title":"The UK10K project identifies rare variants in health and disease","year":2015,"lang":"en","type":"article","venue":"Nature","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1188,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université du Québec à Montréal; Queen's University; McGill University; Jewish General Hospital","funders":"Det Sundhedsvidenskabelige Fakultet, Københavns Universitet; Economic and Social Research Council; Medizinische Universität Graz; Karl-Franzens-Universität Graz; Faculty of Health and Medical Sciences, University of Western Australia; Biotechnology and Biological Sciences Research Council; Rigshospitalet; Imperial College London; Medical Research Council; Gentofte Hospital; Università degli Studi di Verona; National Institute for Health and Care Research; British Heart Foundation; Wellcome Trust","keywords":"1000 Genomes Project; Imputation (statistics); Exome; Exome sequencing; Computational biology; Biology; Population; Allele frequency; Genome-wide association study; Genetics; Genetic association; DNA sequencing; Genomics; Annotation; Genome; Allele; Missing data; Single-nucleotide polymorphism; Phenotype; Genotype; Computer science; Gene; Machine learning; Medicine","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":[0.005652198,0.001576363,0.002183771,0.003230014,0.001001597,0.002741164,0.001872056,0.002057552,0.0151557],"category_scores_gemma":[0.0162823,0.0009875158,0.001398275,0.005285935,0.0006852621,0.001433515,0.004846311,0.001572143,0.007453881],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00121824,"about_ca_system_score_gemma":0.002335347,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01663125,"about_ca_topic_score_gemma":0.02250715,"domain_scores_codex":[0.9949039,0.001634071,0.0004750319,0.001505042,0.001051058,0.0004309554],"domain_scores_gemma":[0.9898188,0.004707585,0.001225167,0.001700111,0.001525319,0.00102303],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.005564307,0.0002085052,0.09035144,0.007292645,0.001809637,0.001828799,0.002143638,0.01514527,0.035801,0.01474474,0.4096943,0.4154157],"study_design_scores_gemma":[0.001078509,0.0004838415,0.1224014,0.002828034,0.000986806,0.002241045,0.0007642693,0.01314477,0.01105312,0.02309116,0.8215723,0.0003547613],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.1169908,0.02088066,0.1601396,0.005909286,0.001754869,0.0007480744,0.6523973,0.01271606,0.02846336],"genre_scores_gemma":[0.1393523,0.007829008,0.1917765,0.002570369,0.0003259204,0.001460529,0.6386022,0.004884793,0.01319832],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01663125,"threshold_uncertainty_score":0.0507009,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01540108307809,"score_gpt":0.3138570078752767,"score_spread":0.2984559247971866,"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."}}