{"id":"W2782079968","doi":"10.1038/s41598-017-18385-9","title":"Exome-wide rare variant analyses of two bone mineral density phenotypes: the challenges of analyzing rare genetic variation","year":2018,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; McGill University Health Centre; Université du Québec à Montréal; McGill University; Jewish General Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Medical Research Council; Canadian Institutes of Health Research; National Institute on Aging; National Institutes of Health; Wellcome Trust","keywords":"Association test; Phenotype; Single-nucleotide polymorphism; Genome-wide association study; Multivariate statistics; Genetic association; Biology; Genetics; Bone mineral; Multivariate analysis; Candidate gene; Gene; Genotype; Osteoporosis; Medicine; Internal medicine; Endocrinology; Statistics; Mathematics","routes":{"ca_aff":true,"ca_fund":true,"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":[0.01672735,0.0008452555,0.001404812,0.001889105,0.0005350181,0.001617722,0.0008628585,0.0008529026,0.001547646],"category_scores_gemma":[0.04924027,0.0003127601,0.001338352,0.001705888,0.001395831,0.0009347773,0.001940002,0.001691698,0.0002834785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002251897,"about_ca_system_score_gemma":0.0004094796,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001180572,"about_ca_topic_score_gemma":0.002076098,"domain_scores_codex":[0.9848508,0.01119575,0.0007062781,0.001967127,0.001079129,0.0002008986],"domain_scores_gemma":[0.9225364,0.06842253,0.002425101,0.005279166,0.0008320534,0.0005047716],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004119303,0.0002593152,0.679101,0.0005698163,0.007682011,0.002549705,0.000879605,0.02287597,0.04628256,0.007020417,0.001671921,0.2269885],"study_design_scores_gemma":[0.0006917043,0.002056595,0.7337345,0.0001102093,0.001877752,0.007563903,0.0004866959,0.1844256,0.02647884,0.03580401,0.006494095,0.0002761363],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7482831,0.001452426,0.2458441,0.0006875395,0.00006669886,0.00006760825,0.001823598,0.0004016527,0.001373203],"genre_scores_gemma":[0.9371561,0.0002165863,0.06091824,0.0001885914,0.00006954966,0.00008239802,0.0008046115,0.0001205864,0.0004433178],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01672735,"threshold_uncertainty_score":0.08846378,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03126543211006439,"score_gpt":0.2982647206377523,"score_spread":0.266999288527688,"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."}}