{"id":"W3194509975","doi":"10.1101/652966","title":"Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Minority Health and Health Disparities; National Center for Advancing Translational Sciences; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute on Aging; National Institute of Dental and Craniofacial Research; Gillings School of Public Health; University of Toronto; Mississippi State Department of Health; University of Texas Health Science Center at Houston; National Heart, Lung, and Blood Institute; Broad Institute; American Thoracic Society; University of Miami; Northwestern University; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Diabetes and Digestive and Kidney Diseases; ResMed Foundation; Jackson State University; University of Illinois at Urbana-Champaign; ResMed; National Institute on Deafness and Other Communication Disorders; San Diego State University; National Institutes of Health; U.S. Department of Health and Human Services; Office of Dietary Supplements; American Sleep Medicine Foundation; Ontario Institute for Cancer Research","keywords":"Genetics; Phenotype; Biology; Genetic association; Craniofacial; Genome-wide association study; Gene; Whole genome sequencing; Genome; Genotype; Single-nucleotide polymorphism","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":[0.0008262163,0.0001920595,0.0003156658,0.0008995608,0.0006711201,0.0005197622,0.0004797747,0.0003243489,0.004427921],"category_scores_gemma":[0.001604925,0.0001479232,0.000366429,0.001324896,0.0001568381,0.00009859777,0.0007412728,0.0004314982,0.0004908773],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002212096,"about_ca_system_score_gemma":0.0003209634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01571679,"about_ca_topic_score_gemma":0.02285647,"domain_scores_codex":[0.9995297,0.000194206,0.0000214296,0.0001127412,0.00007431975,0.00006750628],"domain_scores_gemma":[0.9992975,0.0002639943,0.0001219323,0.0001306974,0.00008307552,0.0001027383],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001398324,0.000130725,0.9421648,0.00008739281,0.000897712,0.0007208457,0.0002222474,0.0007678904,0.02193932,0.0003847649,0.01350778,0.01777814],"study_design_scores_gemma":[0.0001139769,0.00008212808,0.9916455,0.000016049,0.0002549428,0.0003493039,0.0001109504,0.0009159311,0.001694864,0.0002453363,0.004561601,0.000009407042],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9619006,0.000498482,0.002548926,0.0004335768,0.00001841792,0.00003547862,0.0325276,0.000207283,0.001829582],"genre_scores_gemma":[0.9729779,0.000161015,0.002520993,0.0001883808,0.0000232445,0.00007405173,0.02255321,0.00006958561,0.001431634],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01571679,"threshold_uncertainty_score":0.0312506,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01812560370259,"score_gpt":0.2694119963657108,"score_spread":0.2512863926631208,"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."}}