{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001695334,0.0001536536,0.0001796405,0.00006356942,0.00007999798,0.0000133333,0.0002363139,0.0002219152,0.0001201741],"category_scores_gemma":[0.00007587726,0.0001316635,0.00006001044,0.00006437807,0.00008294569,0.000001809672,0.0000835528,0.00006614445,0.00005613281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002188749,"about_ca_system_score_gemma":0.0002709629,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.03817052,"about_ca_topic_score_gemma":0.4068776,"domain_scores_codex":[0.9987285,0.0001019087,0.0003112796,0.0003852474,0.0000793224,0.0003938118],"domain_scores_gemma":[0.9992964,0.0000256447,0.00009086153,0.0004174074,0.00005219253,0.0001175314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000001930827,0.00001127328,0.1569965,0.000002019314,0.00002775104,0.000005244277,0.0001575712,0.0002357277,0.8389408,0.00003231213,0.001901301,0.001687551],"study_design_scores_gemma":[0.0007047989,0.0001231666,0.9264126,0.00001806839,0.00001624503,0.000002852801,0.0001505177,0.00003843755,0.004922737,0.001370409,0.06588444,0.0003557469],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959744,0.0007507644,0.00135472,0.0003975749,0.0001059478,0.0001106324,0.0001704855,0.000008827649,0.00112665],"genre_scores_gemma":[0.9925246,0.0001090498,0.001214296,0.0004163345,0.0003231571,0.00001887761,0.0002523874,0.00002468588,0.005116676],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8340181,"threshold_uncertainty_score":0.9682344,"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."}}