{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003847791,0.0001594873,0.0002150689,0.00002049434,0.00007891847,0.00005543064,0.0004313575,0.0001655622,0.00001055927],"category_scores_gemma":[0.002951663,0.0001218515,0.0001659166,0.0000783881,0.0001046801,0.000002450133,0.0002384203,0.0001439889,0.00003283894],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001508979,"about_ca_system_score_gemma":0.0003054231,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004011843,"about_ca_topic_score_gemma":0.0001820721,"domain_scores_codex":[0.9985637,0.00009856003,0.0004955388,0.0004656039,0.0001047711,0.000271805],"domain_scores_gemma":[0.9988505,0.0002268063,0.0002019566,0.0003919569,0.0001099456,0.0002188214],"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":[0.003508386,0.001348416,0.117579,0.0007034216,0.001227314,0.0003566901,0.01317781,0.02984822,0.4268285,0.0008633816,0.1877032,0.2168557],"study_design_scores_gemma":[0.00145932,0.002402809,0.005804526,0.00003717108,0.0001604474,0.00001876153,0.004058195,0.003225761,0.00884203,0.0007414372,0.9726112,0.0006383265],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873991,0.002498917,0.0008983033,0.00747714,0.0003112368,0.0006394111,0.00008433055,0.00001422061,0.0006773256],"genre_scores_gemma":[0.9770944,0.000998226,0.007457902,0.0127254,0.001012262,0.00005006911,0.00005695491,0.00003681643,0.000567945],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7849081,"threshold_uncertainty_score":0.496896,"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."}}