{"id":"W4224273409","doi":"10.1016/j.xhgg.2022.100108","title":"Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Women's Health Research Institute; University of British Columbia","funders":"Provincial Health Services Authority; Strong; BC Children's Hospital; Genome British Columbia; BC Children’s Hospital Foundation","keywords":"Medical genetics; Exome sequencing; Context (archaeology); Reinterpretation; Genetic counseling; Genetic testing; Medical diagnosis; Disease; Genomics; Biology; Multidisciplinary approach; Genetics; Genome; Family medicine; Medicine; Mutation; Pathology; Gene","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":[0.0005364277,0.0001899305,0.0002468354,0.00003234298,0.0008864119,0.00005459012,0.0003882431,0.00002889724,0.0000165028],"category_scores_gemma":[0.00005659221,0.0001287049,0.0001156172,0.00006217842,0.0005943284,0.000002800161,0.0007901134,0.0001268508,3.382387e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001466105,"about_ca_system_score_gemma":0.000111221,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002497914,"about_ca_topic_score_gemma":0.0001116102,"domain_scores_codex":[0.9984233,0.0002801135,0.0004667541,0.0004472843,0.0001651691,0.0002173195],"domain_scores_gemma":[0.9989504,0.0001252046,0.0002289014,0.0005213746,0.00005667951,0.0001174205],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004313514,0.0003653252,0.9785476,0.00006202794,0.0003837861,0.00002761716,0.001174938,0.008243804,0.004429467,0.0004219576,0.0001290518,0.00578304],"study_design_scores_gemma":[0.002487614,0.001024204,0.8966618,0.000005450732,0.0003734111,0.00002179094,0.004921893,0.0001729509,0.0003188777,0.004057718,0.08952954,0.0004248119],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9134118,0.0855021,0.0000246072,0.0001564641,0.0001173226,0.0006440319,0.00009837996,0.000003787697,0.00004148278],"genre_scores_gemma":[0.9743943,0.02464142,0.0001128283,0.0003536764,0.000170641,0.0001951294,0.00002825386,0.00002806685,0.00007568741],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08940049,"threshold_uncertainty_score":0.6817653,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02218335397153912,"score_gpt":0.2970020050511915,"score_spread":0.2748186510796524,"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."}}