{"id":"W2377644375","doi":"10.1002/mgg3.223","title":"Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care","year":2016,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"Sanger sequencing; Exome sequencing; Concordance; DNA sequencing; Exome; Computational biology; Genetics; Biology; Personal genomics; Genomics; Medicine; Gene; Genome; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002245267,0.0002794647,0.0003664882,0.00006221555,0.0001153641,0.00001623809,0.0002643867,0.0001907891,0.000007898752],"category_scores_gemma":[0.0001957536,0.0002121361,0.0001476648,0.00006099516,0.000326894,0.000002790095,0.0001926695,0.00006963641,0.000006199232],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001121251,"about_ca_system_score_gemma":0.00033067,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001999357,"about_ca_topic_score_gemma":0.00002110206,"domain_scores_codex":[0.9980613,0.00008302362,0.0006133779,0.0007238772,0.000118524,0.0003998795],"domain_scores_gemma":[0.9984254,0.00007097744,0.0002137332,0.0006907137,0.0002627148,0.0003364803],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00003307614,0.00001035195,0.0235125,0.00003592881,0.0001172143,0.000007258488,0.0002011606,0.0000174228,0.9384907,0.00007173427,0.000542785,0.0369598],"study_design_scores_gemma":[0.01218823,0.01004804,0.2456491,0.0005272446,0.001641587,0.000230015,0.003130591,0.00009834248,0.2963597,0.004422763,0.4229148,0.002789615],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9667547,0.01331957,0.01737748,0.001124714,0.0002040063,0.0006665796,0.0004154508,0.00001508226,0.0001224473],"genre_scores_gemma":[0.9935026,0.001382571,0.002886646,0.001055596,0.000608977,0.00007540673,0.0003287613,0.00006589313,0.0000935708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.642131,"threshold_uncertainty_score":0.865066,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03033868518006399,"score_gpt":0.3135937801165298,"score_spread":0.2832550949364658,"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."}}