{"id":"W4406147912","doi":"10.1017/s0266462324002034","title":"PP30 The Health System Impact Of Returning Rare Disease Variants As Secondary Findings From Genomic Sequencing: A Population-Based Model","year":2024,"lang":"en","type":"article","venue":"International Journal of Technology Assessment in Health Care","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Population; Medicine; Medical genetics; Disease; Internal medicine; Genetics; Biology; Gene; Environmental health","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006502544,0.001369001,0.002257436,0.002043177,0.0008449213,0.003302513,0.002806997,0.003404733,0.01898471],"category_scores_gemma":[0.01723937,0.001138772,0.003264066,0.00191805,0.001714483,0.001842573,0.002168641,0.003113109,0.001156625],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005767827,"about_ca_system_score_gemma":0.00439645,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1423373,"about_ca_topic_score_gemma":0.05262128,"domain_scores_codex":[0.9966697,0.00203712,0.00008164299,0.0004964357,0.0001450078,0.0005701796],"domain_scores_gemma":[0.9880877,0.009291017,0.001012305,0.0002522285,0.0006791069,0.0006776786],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0006295654,0.000250671,0.04005155,0.0002063675,0.0007982904,0.0007334587,0.0002534099,0.9108772,0.0001942776,0.030179,0.007188132,0.008638115],"study_design_scores_gemma":[0.0004184812,0.0004451243,0.01472932,0.0001583031,0.0006765305,0.0004338773,0.0005595861,0.949333,0.00006583252,0.03004203,0.003051108,0.00008681692],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.79979,0.003824019,0.0899454,0.02243714,0.0005127613,0.001609575,0.03452251,0.0005420076,0.04681663],"genre_scores_gemma":[0.9735145,0.001350496,0.006525073,0.00118192,0.0001670826,0.0006189105,0.003030417,0.00004807856,0.01356345],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1423373,"threshold_uncertainty_score":0.2830175,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009533820013410197,"score_gpt":0.3372772520474338,"score_spread":0.3277434320340236,"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."}}