{"id":"W2948656458","doi":"10.1186/s13073-021-00917-8","title":"Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program","year":2021,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Minority Health and Health Disparities; National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Diabetes and Digestive and Kidney Diseases; National Center for Research Resources; National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; National Eye Institute; National Institute on Aging; National Institute of Environmental Health Sciences; Gillings School of Public Health; National Human Genome Research Institute; University of Western Australia; Ontario Institute for Cancer Research; Hollywood Private Hospital Research Foundation; American Sleep Medicine Foundation; Philips Respironics; American Thoracic Society; Broad Institute; University of Pittsburgh; University of Texas Health Science Center at Houston; Bayer Corporation; National Cancer Institute; University of Toronto; University of Washington; ResMed; ResMed Foundation; National Heart, Lung, and Blood Institute; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Genetic architecture; Genome-wide association study; Sleep apnea; Genetic association; Genetics; Craniofacial; Obstructive sleep apnea; Phenotype; Medicine; Sleep disordered breathing; Candidate gene; Biology; Bioinformatics; Single-nucleotide polymorphism; Genotype; Gene; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001114441,0.0001266477,0.0003235872,0.00006069507,0.00006465647,0.000007213257,0.0001981272,0.0001596698,0.00005951473],"category_scores_gemma":[0.001127425,0.00009173467,0.00008021696,0.0003283703,0.0000587611,0.000002395405,0.00006422999,0.0001192939,0.000005181242],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004467011,"about_ca_system_score_gemma":0.00007507833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001536926,"about_ca_topic_score_gemma":0.0002271838,"domain_scores_codex":[0.9984893,0.0003189551,0.0004311206,0.0002701272,0.0001905807,0.00029993],"domain_scores_gemma":[0.9991118,0.00009545397,0.0002451278,0.000323907,0.0001829796,0.0000406852],"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":[0.00002621881,0.0002728294,0.07527529,0.00004729761,0.000316002,0.00001429455,0.001924101,0.0009496494,0.9122663,0.00004246825,0.0008319351,0.008033592],"study_design_scores_gemma":[0.001702175,0.0006011765,0.9106566,0.00002484481,0.0001919161,0.00002381298,0.0034028,0.0001908437,0.002049723,0.0006085194,0.0802911,0.0002564258],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9824103,0.007047726,0.0008664547,0.00665401,0.0001246989,0.0002784708,0.00002634943,0.00001037108,0.002581619],"genre_scores_gemma":[0.9956087,0.0004553757,0.001302917,0.0007010484,0.0003082738,0.00004424556,0.0008383301,0.00001119915,0.0007299008],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9102166,"threshold_uncertainty_score":0.3740831,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02683164360285734,"score_gpt":0.3218976365707448,"score_spread":0.2950659929678874,"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."}}