{"id":"W3011507303","doi":"10.1111/cge.13736","title":"When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families","year":2020,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Genome Alberta; Canadian Institutes of Health Research; Genome British Columbia; Ontario Genomics Institute; Genome Canada","keywords":"Exome sequencing; Exome; Genetics; Consanguinity; Biology; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0723493,0.001353491,0.002491071,0.007669307,0.003187878,0.009063452,0.004332707,0.00397819,0.002310649],"category_scores_gemma":[0.1505125,0.001221099,0.001673019,0.003533579,0.00629979,0.007245999,0.004909809,0.01080995,0.003115227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002164673,"about_ca_system_score_gemma":0.007444006,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01362222,"about_ca_topic_score_gemma":0.03725851,"domain_scores_codex":[0.9557678,0.02772189,0.005697929,0.003547592,0.00597569,0.001289038],"domain_scores_gemma":[0.896417,0.05562568,0.006185993,0.01102773,0.02504663,0.005697013],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006881746,0.0003213697,0.05481073,0.003190154,0.0008421076,0.00796408,0.02349617,0.002282259,0.006559844,0.007100826,0.1771398,0.7156045],"study_design_scores_gemma":[0.0007146546,0.0008706138,0.1360426,0.04381741,0.001374887,0.02481469,0.05152689,0.009948645,0.01369946,0.1982016,0.5175534,0.001435108],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.09217288,0.1258624,0.3256004,0.4152642,0.009550568,0.002145102,0.001546811,0.004863424,0.02299438],"genre_scores_gemma":[0.2397417,0.06526835,0.6072945,0.06627537,0.006716369,0.003044493,0.001236878,0.002885567,0.007536829],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.0723493,"threshold_uncertainty_score":0.3826243,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1526366768544446,"score_gpt":0.3987119764471394,"score_spread":0.2460752995926948,"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."}}