{"id":"W2744120265","doi":"10.1371/journal.pgen.1006925","title":"Rare coding variants pinpoint genes that control human hematological traits","year":2017,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Institute of Genetics; Medical Research Council; Institut de Cardiologie de Montréal; Canada Research Chairs; British Heart Foundation; National Heart, Lung, and Blood Institute; Stavros Niarchos Foundation; National Institute for Health and Care Research; National Institutes of Health; Fondation Institut de Cardiologie de Montréal; U.S. Department of Health and Human Services","keywords":"Genome-wide association study; Biology; Minor allele frequency; Genetics; Odds ratio; Genetic association; splice; Quantitative trait locus; Locus (genetics); Allele; Gene; Single-nucleotide polymorphism; Case-control study; Allele frequency; Genotype; Internal medicine; Medicine","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":[0.0003968806,0.0006146889,0.0004416876,0.001360307,0.0003418092,0.0005700798,0.000426531,0.0005993193,0.005533698],"category_scores_gemma":[0.002350807,0.000178052,0.0005573924,0.001412657,0.0004688301,0.0002150177,0.0004074597,0.000587115,0.00060354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001371105,"about_ca_system_score_gemma":0.0001331358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001358791,"about_ca_topic_score_gemma":0.001407221,"domain_scores_codex":[0.9994121,0.0001369987,0.00006792854,0.000230829,0.00009864617,0.00005355648],"domain_scores_gemma":[0.9984107,0.0007839121,0.000561271,0.0000891317,0.00007003864,0.00008496153],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001865169,0.00009470106,0.8291482,0.0004322703,0.001803651,0.0068629,0.0005399299,0.001192405,0.09958421,0.002347096,0.002503866,0.05362563],"study_design_scores_gemma":[0.0001523045,0.0002543734,0.9707795,0.0001113614,0.0006251248,0.00952446,0.0002461445,0.001760442,0.007150365,0.002955986,0.00640115,0.00003867582],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9846466,0.004387755,0.005517691,0.0002629703,0.00008125243,0.00003799736,0.003670063,0.0001523547,0.001243399],"genre_scores_gemma":[0.995262,0.0006684839,0.002065266,0.0001285225,0.00007018694,0.0000224053,0.001268468,0.00002670462,0.0004877826],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005533698,"threshold_uncertainty_score":0.01851207,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05570409539106284,"score_gpt":0.2965105635724198,"score_spread":0.240806468181357,"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."}}