{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001692361,0.0003787697,0.0006222537,0.001495344,0.0008709631,0.0007520632,0.0009320151,0.0005979366,0.006460608],"category_scores_gemma":[0.003051027,0.0002606724,0.001052675,0.002885818,0.0001814326,0.0001796208,0.0008593512,0.0006171765,0.0006366228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003579499,"about_ca_system_score_gemma":0.0006051683,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0236239,"about_ca_topic_score_gemma":0.03652623,"domain_scores_codex":[0.9987597,0.0005277631,0.00008239291,0.000329932,0.0001680644,0.0001320698],"domain_scores_gemma":[0.9984542,0.0006720775,0.0002466387,0.0003003926,0.000191516,0.0001351282],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002194274,0.000115826,0.9419034,0.0002992361,0.005363349,0.0008226178,0.0001995048,0.001196497,0.007417971,0.0004632325,0.01990167,0.02012227],"study_design_scores_gemma":[0.000266566,0.0001222518,0.9866368,0.00004662822,0.002130132,0.0005388446,0.0001157564,0.001476788,0.0006671179,0.0003701664,0.007610604,0.00001839967],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8937846,0.002566986,0.00652393,0.0008875493,0.00005440623,0.000105784,0.09250136,0.0005045172,0.00307089],"genre_scores_gemma":[0.9376462,0.0006249421,0.007026617,0.0004563892,0.00006292327,0.0003434771,0.05174782,0.0001882546,0.001903308],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0236239,"threshold_uncertainty_score":0.04697281,"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."}}