{"id":"W2763481475","doi":"10.24870/cjb.2017-a67","title":"Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar","year":2017,"lang":"en","type":"article","venue":"Canadian Journal of Biotechnology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Exome sequencing; Genetics; Biology; Allele frequency; Population; Exome; Genomics; 1000 Genomes Project; Population genomics; Whole genome sequencing; Genome; Evolutionary biology; Allele; Gene; Genotype; Single-nucleotide polymorphism; Medicine; Mutation","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"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":[0.00108361,0.000375942,0.0004837896,0.00144639,0.0009214144,0.000787765,0.0003849086,0.0005969307,0.004655817],"category_scores_gemma":[0.003002407,0.0002261386,0.0007667745,0.002076743,0.000350386,0.0003054074,0.0009827759,0.0004364831,0.000719413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004049832,"about_ca_system_score_gemma":0.000651039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008771983,"about_ca_topic_score_gemma":0.01659891,"domain_scores_codex":[0.9991571,0.0001540197,0.0001090431,0.0003348373,0.0001290293,0.0001160529],"domain_scores_gemma":[0.9991979,0.0003948106,0.0001172301,0.00014535,0.000104055,0.00004069315],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002485181,0.0002667138,0.7333836,0.002231542,0.002748201,0.009889702,0.002911875,0.007186782,0.08075644,0.003445593,0.036631,0.1180633],"study_design_scores_gemma":[0.0001677456,0.0001708703,0.9437582,0.0002750971,0.0007786776,0.006053583,0.0006760325,0.00406842,0.006790837,0.002655496,0.03454211,0.00006288882],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.912115,0.002212349,0.005314069,0.0004601012,0.00004370727,0.00009455602,0.07820402,0.0001430037,0.001413187],"genre_scores_gemma":[0.7905624,0.0009827309,0.009694701,0.0007198154,0.00003645724,0.0001743669,0.1961847,0.00006795485,0.001576909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008771983,"threshold_uncertainty_score":0.01744187,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007824954391832128,"score_gpt":0.2327750650104001,"score_spread":0.224950110618568,"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."}}