{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003620565,0.0003197848,0.0003217339,0.001741474,0.0005539593,0.0008429078,0.0002861169,0.0007721309,0.001108464],"category_scores_gemma":[0.008989451,0.0002180729,0.0003674483,0.001698565,0.0003830325,0.0003499038,0.0009630219,0.0004709225,0.0001579464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002916919,"about_ca_system_score_gemma":0.0007395331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00510312,"about_ca_topic_score_gemma":0.006451424,"domain_scores_codex":[0.9965018,0.002190518,0.0002384095,0.000450005,0.0004275671,0.0001916814],"domain_scores_gemma":[0.9959376,0.001402718,0.001361132,0.0004538612,0.0004199997,0.0004245972],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001822801,0.0000282671,0.9896136,0.00002776889,0.000133435,0.0006754668,0.0002689566,0.0001018996,0.0006445051,0.0002924942,0.001060219,0.006971206],"study_design_scores_gemma":[0.00002888464,0.00009225735,0.9936405,0.00004348119,0.00008852626,0.002707058,0.0002166397,0.000387275,0.0003408085,0.0003081289,0.002137267,0.000009317155],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994108,0.001550148,0.001123052,0.0005529422,0.00002825134,0.00004904913,0.00101502,0.00001455141,0.001559105],"genre_scores_gemma":[0.9970604,0.0005752763,0.0009063461,0.0002263345,0.00003767122,0.00004288777,0.000826218,0.000010765,0.0003140085],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00510312,"threshold_uncertainty_score":0.01914763,"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."}}