{"id":"W4285084446","doi":"10.1164/rccm.202203-0618oc","title":"Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea","year":2022,"lang":"en","type":"article","venue":"American Journal of Respiratory and Critical Care Medicine","topic":"Obstructive Sleep Apnea Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Research Resources; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Environmental Health Sciences; National Institute on Aging; National Eye Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; U.S. Department of Health and Human Services; National Institutes of Health; Evans Medical Foundation; School of Medicine, Boston University; National Center for Advancing Translational Sciences; National Human Genome Research Institute; University of Toronto","keywords":"Medicine; Obstructive sleep apnea; Genome-wide association study; Bioinformatics; Genetic linkage; Gene; Genetic association; Sleep apnea; Population; Genetics; Genotype; Internal medicine; Biology; 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":[0.0004578917,0.0004489015,0.0003408756,0.001184965,0.0004605201,0.0004472425,0.0003975541,0.000758614,0.001432733],"category_scores_gemma":[0.001576247,0.0001703205,0.0005720982,0.0008947512,0.0003403639,0.000101794,0.0003840245,0.000396709,0.00009764284],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001922543,"about_ca_system_score_gemma":0.00023991,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004696145,"about_ca_topic_score_gemma":0.005238936,"domain_scores_codex":[0.9995381,0.00008216205,0.00003485237,0.0002113368,0.00008100938,0.00005265663],"domain_scores_gemma":[0.9992554,0.0003823225,0.0002140322,0.00003762838,0.00004418397,0.00006642092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001372858,0.0001372934,0.7252375,0.0001900884,0.001040286,0.01097913,0.0005726007,0.002341632,0.228589,0.00102997,0.001164725,0.02734492],"study_design_scores_gemma":[0.0001014916,0.0002274816,0.9786952,0.00005814313,0.0004386424,0.00761107,0.0001761775,0.003609496,0.007116278,0.0006228886,0.001311974,0.00003109884],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968618,0.0004256399,0.00171314,0.0000866546,0.00001451016,0.00001461677,0.0005591604,0.00002703985,0.0002974209],"genre_scores_gemma":[0.9979771,0.000129019,0.001324019,0.00006351565,0.00001719621,0.000009453382,0.0003577383,0.000006302183,0.0001156727],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004696145,"threshold_uncertainty_score":0.009337604,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02206593893897373,"score_gpt":0.2984882059471511,"score_spread":0.2764222670081773,"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."}}