{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005008017,0.0000840315,0.00009651131,0.00001780287,0.0005547264,0.00005378529,0.0003862495,0.0001336934,0.0001908071],"category_scores_gemma":[0.0006491775,0.00005139882,0.00009666367,0.00007820133,0.0001398912,0.0000037774,0.00003978478,0.0002049202,0.000005813899],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003186221,"about_ca_system_score_gemma":0.009962422,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.1854215,"about_ca_topic_score_gemma":0.9024876,"domain_scores_codex":[0.9985953,0.0001159701,0.0002399348,0.000123018,0.0005364134,0.0003893369],"domain_scores_gemma":[0.9990234,0.00003340778,0.0001583839,0.0001050003,0.0002593457,0.0004204487],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001611762,0.0001080509,0.3604013,0.00002265793,0.002084421,0.0002939178,0.0047314,0.00003058543,0.2343896,0.0001434332,0.3899372,0.007696229],"study_design_scores_gemma":[0.0003912986,0.00008887933,0.2987313,0.00001780106,0.00004586562,0.00004846576,0.001634469,0.00005640713,0.001340106,0.00006531861,0.6974152,0.0001648441],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907951,0.000841325,0.000002957385,0.00721512,0.0005278264,0.00006991861,0.0003769957,9.78436e-7,0.0001697454],"genre_scores_gemma":[0.9957315,0.00007899581,0.000008384625,0.002365362,0.001382013,0.000002741643,0.00003402904,0.000007575083,0.0003893654],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7170661,"threshold_uncertainty_score":0.9956502,"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."}}