{"id":"W2466213235","doi":"10.1007/s00439-016-1702-6","title":"Whole-genome sequencing in French Canadians from Quebec","year":2016,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; Université de Montréal; Montreal Heart Institute","funders":"Canadian Institutes of Health Research; Institut de Cardiologie de Montréal; Canada Research Chairs; Genome Canada","keywords":"Biology; Genome-wide association study; Imputation (statistics); 1000 Genomes Project; Genetics; Biobank; Human genetics; Human genetic variation; Minor allele frequency; Population; Allele frequency; Genetic association; Whole genome sequencing; Human genome; Genetic variation; Exome; Genotype; Genome; Single-nucleotide polymorphism; Exome sequencing; Phenotype; Missing data; Gene; Demography","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0009223726,0.0006077952,0.0006643276,0.002838951,0.004167123,0.001978389,0.001059043,0.0009476529,0.004816611],"category_scores_gemma":[0.002212389,0.000364581,0.000847399,0.00586903,0.000620385,0.0002821121,0.0008782098,0.0008215052,0.0004007954],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01853547,"about_ca_system_score_gemma":0.01963276,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.994294,"about_ca_topic_score_gemma":0.9960344,"domain_scores_codex":[0.9990152,0.0001310496,0.00006252702,0.0002526687,0.0001757682,0.0003627291],"domain_scores_gemma":[0.9984119,0.0001830782,0.0001549812,0.00007370931,0.0008903695,0.0002859544],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000625354,0.00009586118,0.9291611,0.0002134804,0.0007355054,0.002429242,0.006361476,0.0009886902,0.004543984,0.002491103,0.01731733,0.03503692],"study_design_scores_gemma":[0.00005217932,0.00003882085,0.9741673,0.0002152107,0.000193621,0.000805167,0.0033363,0.0005174594,0.0003359702,0.000141033,0.02015932,0.00003759156],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9551108,0.005259064,0.001339596,0.002302416,0.00009820254,0.0001207237,0.02613779,0.00006378228,0.009567739],"genre_scores_gemma":[0.9794389,0.002419439,0.001515493,0.001106747,0.00002835088,0.0000839252,0.006106353,0.00005232248,0.009248397],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01853547,"threshold_uncertainty_score":0.1344848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02015895549613003,"score_gpt":0.2498903498000487,"score_spread":0.2297313943039186,"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."}}