{"id":"W4283072735","doi":"10.1186/s13023-022-02359-w","title":"Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update","year":2022,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"Foothills Medical Centre; University of Alberta","funders":"Pfizer","keywords":"Transthyretin; Amyloidosis; Human genetics; Medicine; Genetic testing; Internal medicine; Pediatrics; Bioinformatics; Genetics; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.001122796,0.0003881873,0.0007354502,0.002599197,0.0002573291,0.0007245434,0.0005300405,0.0006263613,0.001018062],"category_scores_gemma":[0.002911272,0.000205474,0.0005078781,0.003559025,0.0001900493,0.001216459,0.0004553016,0.0004651007,0.0003707328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004097555,"about_ca_system_score_gemma":0.0004942731,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006461098,"about_ca_topic_score_gemma":0.008760874,"domain_scores_codex":[0.9992241,0.0001585857,0.000191815,0.0001451565,0.0001986529,0.00008170764],"domain_scores_gemma":[0.9972364,0.0005003906,0.001095652,0.00007490239,0.0007911266,0.0003015453],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007619908,0.00004223342,0.98256,0.0001002901,0.00009055797,0.00008421754,0.00005806658,0.00006931696,0.0000534962,0.00003099109,0.003452101,0.01338262],"study_design_scores_gemma":[0.0000117322,0.00004874279,0.9960557,0.0001297952,0.00006372597,0.0003906123,0.0001462552,0.0001495756,0.00003208902,0.00004039594,0.002922968,0.000008260422],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9058264,0.03842072,0.00100632,0.002078348,0.0002270897,0.0001313579,0.04512507,0.0001427041,0.007041988],"genre_scores_gemma":[0.9395611,0.02261538,0.0009124014,0.0006649107,0.0003039938,0.0001710616,0.03510962,0.00002053289,0.0006411298],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006461098,"threshold_uncertainty_score":0.01284695,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01297145939049064,"score_gpt":0.2803581616051312,"score_spread":0.2673867022146405,"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."}}