{"id":"W2788447140","doi":"10.1503/cmaj.171151","title":"The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants","year":2018,"lang":"en","type":"article","venue":"Canadian Medical Association Journal","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Personal genomics; Genetics; Genome; Whole genome sequencing; Biology; DNA sequencing; 1000 Genomes Project; Genotype; Gene; Single-nucleotide polymorphism","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00196907,0.0005473681,0.0006245152,0.002076206,0.004289267,0.001197558,0.00110178,0.000680822,0.004161918],"category_scores_gemma":[0.004284235,0.0004105168,0.0004669424,0.003447186,0.0005808594,0.0001976204,0.001761395,0.0007224893,0.001095106],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006039836,"about_ca_system_score_gemma":0.01365646,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9553021,"about_ca_topic_score_gemma":0.9562774,"domain_scores_codex":[0.9983126,0.0001740019,0.0001021855,0.0003187849,0.0005676028,0.0005248461],"domain_scores_gemma":[0.9975325,0.0001436104,0.0002192279,0.000185465,0.001419884,0.0004993435],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000927603,0.0001582379,0.9020583,0.0004450867,0.0001401483,0.002175905,0.02174383,0.0001495423,0.008463989,0.0009463478,0.02424594,0.03854502],"study_design_scores_gemma":[0.00004685486,0.000118266,0.9602304,0.0002034852,0.0000894939,0.00114216,0.00434828,0.0001544298,0.0006645411,0.0001183025,0.03283698,0.00004672822],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9261029,0.00337337,0.001336882,0.001237795,0.00005888846,0.0008434256,0.05701888,0.00007920402,0.009948713],"genre_scores_gemma":[0.9555498,0.001883691,0.004372278,0.0009882227,0.0000312463,0.0007719124,0.02549739,0.0001122568,0.01079319],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04469788,"threshold_uncertainty_score":0.08992219,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009263218774687635,"score_gpt":0.2261727185216036,"score_spread":0.216909499746916,"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."}}