{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001034546,0.00008808478,0.0001612711,0.00013931,0.0001516494,0.00006458247,0.0002697005,0.0002694114,0.0000168211],"category_scores_gemma":[0.0001563,0.00008586828,0.0000337085,0.00001922906,0.0002984781,0.000008447556,0.00008195795,0.0001398421,0.000002066567],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002081499,"about_ca_system_score_gemma":0.0003882905,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003151195,"about_ca_topic_score_gemma":0.02504074,"domain_scores_codex":[0.9993482,0.00001724604,0.000236049,0.0001793896,0.00003436341,0.0001847723],"domain_scores_gemma":[0.9992958,0.000008200816,0.0001878627,0.0002498166,0.00003263796,0.0002256753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001295524,0.00004809351,0.6642087,0.00001574285,0.0002583725,0.001329696,0.000125643,0.00001899501,0.2667163,0.0001755758,0.001062366,0.06591098],"study_design_scores_gemma":[0.00107817,0.000365063,0.9530775,0.00002792995,0.00003304159,0.0006115086,0.0003245429,0.00002525884,0.007150521,0.001762922,0.03534487,0.0001986665],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900504,0.008132343,0.00002762862,0.001447341,0.0001672727,0.00004654482,0.00007526673,0.000001229674,0.00005202643],"genre_scores_gemma":[0.9968063,0.002081506,0.0007836849,0.0001499856,0.0001114181,9.235616e-7,0.000009477148,0.000009501847,0.00004715451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2888688,"threshold_uncertainty_score":0.9927498,"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."}}