{"id":"W4404642780","doi":"10.1161/jaha.123.033770","title":"Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program","year":2024,"lang":"en","type":"article","venue":"Journal of the American Heart Association","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University of Toronto; University Health Network","funders":"Argenx; Alexion Pharmaceuticals; Sanofi; AstraZeneca","keywords":"Medicine; Amyloidosis; Genetic testing; Transthyretin; Cardiomyopathy; Disease; Genetic counseling; Family history; Restrictive cardiomyopathy; Internal medicine; Pediatrics; Genetics; Heart failure","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003187326,0.0001604485,0.0002076975,0.0006824014,0.0007144558,0.0005795868,0.0002267684,0.0004580496,0.001972792],"category_scores_gemma":[0.001818805,0.0001297409,0.000223894,0.0009705311,0.0002723049,0.00033867,0.0003296621,0.0004602984,0.0001575534],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000425653,"about_ca_system_score_gemma":0.0005672941,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01159218,"about_ca_topic_score_gemma":0.01294445,"domain_scores_codex":[0.9996448,0.00006883383,0.00003933413,0.00007143075,0.0000826381,0.00009301535],"domain_scores_gemma":[0.9985476,0.000349286,0.0005561701,0.0000345648,0.0001428684,0.0003694959],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002213819,0.00003368369,0.9981919,0.000003084323,0.000004610185,0.0006628424,0.00009574967,0.00001500656,0.0001238309,0.00001014032,0.0001515025,0.0006855376],"study_design_scores_gemma":[0.000008918602,0.0001101923,0.9938589,0.00001531536,0.00001362478,0.004738964,0.0007225286,0.0001933074,0.00007236222,0.00003034181,0.0002316748,0.000004028669],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990591,0.00009156931,0.00002282762,0.00008350889,0.000005471371,0.000009535519,0.0001210838,0.000004113374,0.0006027464],"genre_scores_gemma":[0.9996055,0.00006386775,0.00004615879,0.00008979454,0.00001013796,0.000007442344,0.0001153655,0.000001230527,0.00006059745],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01159218,"threshold_uncertainty_score":0.02304941,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.010830917119832,"score_gpt":0.2813648295195472,"score_spread":0.2705339123997152,"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."}}