{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.142155,0.0005081354,0.002229307,0.001959695,0.001009612,0.005483098,0.002708531,0.002377552,0.001795151],"category_scores_gemma":[0.3767876,0.0006276422,0.0004962599,0.002670845,0.002186062,0.002788463,0.002924131,0.00228257,0.0006900688],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001903388,"about_ca_system_score_gemma":0.003058294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003971064,"about_ca_topic_score_gemma":0.003054652,"domain_scores_codex":[0.8543589,0.09358542,0.01968762,0.009584374,0.02081816,0.001965503],"domain_scores_gemma":[0.5155382,0.3939471,0.03108131,0.0193314,0.03741664,0.002685318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001063885,0.0002276765,0.6965278,0.00206171,0.0006936213,0.002867426,0.004184951,0.002238841,0.002113575,0.009057788,0.02121179,0.257751],"study_design_scores_gemma":[0.000357481,0.001174824,0.8264034,0.007700307,0.0008418407,0.01288949,0.005244885,0.03316539,0.006688144,0.0555539,0.04954283,0.000437589],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5894507,0.1108622,0.1211236,0.1275641,0.005337422,0.0009144668,0.003907852,0.001479254,0.03936038],"genre_scores_gemma":[0.955613,0.005131426,0.02667858,0.009129529,0.001217874,0.0003014847,0.001064349,0.0001693928,0.0006943667],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.142155,"threshold_uncertainty_score":0.7517964,"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."}}