{"id":"W2126105762","doi":"10.1016/j.ajhg.2012.11.012","title":"Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis","year":2012,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Chronic Lymphocytic Leukemia Research","field":"Medicine","cited_by":93,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"U.S. National Library of Medicine; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of General Medical Sciences; Vetenskapsrådet; National Institutes of Health; Versus Arthritis; European Commission","keywords":"Genetics; Genotyping; Nonsynonymous substitution; Gene; Biology; Genetic association; Haplotype; Locus (genetics); Genome-wide association study; Minor allele frequency; Allele frequency; Missense mutation; Exon; Allele; Candidate gene; Single-nucleotide polymorphism; Genotype; Genome; Mutation","routes":{"ca_aff":true,"ca_fund":false,"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":[0.001320756,0.0006002305,0.0006109777,0.001684636,0.0007195302,0.0009199468,0.0005479212,0.0008542532,0.003145578],"category_scores_gemma":[0.004733558,0.0002750989,0.001050366,0.001798846,0.000775289,0.0003215389,0.0005791258,0.001054495,0.0003866907],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001759344,"about_ca_system_score_gemma":0.0003120203,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002237008,"about_ca_topic_score_gemma":0.004070329,"domain_scores_codex":[0.998184,0.0005490797,0.0003154227,0.0004287614,0.000325055,0.0001975957],"domain_scores_gemma":[0.9958092,0.001953947,0.001099867,0.0004368004,0.0002729968,0.000427215],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003715291,0.0001538849,0.8922671,0.0001785592,0.001750681,0.00282032,0.0004122833,0.000595496,0.08061897,0.0009697684,0.0007478113,0.01576975],"study_design_scores_gemma":[0.0002055157,0.0003099407,0.9858733,0.00003903272,0.001122125,0.004683527,0.0002680801,0.001442214,0.003528408,0.001298593,0.001199281,0.00003002308],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967154,0.0006945657,0.001390808,0.0001709905,0.00004763856,0.000008150215,0.0004050983,0.0000291521,0.00053811],"genre_scores_gemma":[0.9985929,0.0001118686,0.0006097979,0.00008041743,0.00005865091,0.000005978473,0.0003505708,0.00001991848,0.0001697086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003145578,"threshold_uncertainty_score":0.01052302,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03134227535539375,"score_gpt":0.3150845026400234,"score_spread":0.2837422272846297,"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."}}