{"id":"W4403910227","doi":"10.1101/2024.10.29.24316346","title":"Rare diseases load through the study of a regional population","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Human Health and Disease","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Université du Québec à Chicoutimi","funders":"","keywords":"Geography; Population; Regional science; Medicine; Environmental health","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":[0.001279933,0.0003337322,0.000376588,0.001245672,0.001185605,0.001193585,0.0005827387,0.0003358792,0.002745666],"category_scores_gemma":[0.0027798,0.0001262537,0.000381331,0.001327431,0.0004079056,0.0002164673,0.0006805005,0.000401332,0.0003345674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001817277,"about_ca_system_score_gemma":0.002115805,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.5863632,"about_ca_topic_score_gemma":0.5647616,"domain_scores_codex":[0.9991503,0.0002600278,0.0000339248,0.0003072862,0.0001327364,0.0001157613],"domain_scores_gemma":[0.9984264,0.0002400662,0.0003541684,0.0002186984,0.0005550844,0.0002054936],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001132788,0.00002624728,0.9878059,0.00002575008,0.000221611,0.0004133383,0.000514948,0.000426834,0.001994058,0.0002329119,0.001295555,0.006929482],"study_design_scores_gemma":[0.00001492108,0.00009254138,0.9931813,0.00002733575,0.0001100219,0.0007361342,0.0006131712,0.001222073,0.0004989753,0.0001331703,0.003353919,0.00001640091],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9879476,0.0005766344,0.00428082,0.0003179216,0.00002917097,0.0001146757,0.003998378,0.00005856164,0.002676112],"genre_scores_gemma":[0.9962149,0.0001511981,0.001383579,0.0001443709,0.00001768841,0.00004212112,0.0010806,0.00002452853,0.0009409479],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5863632,"threshold_uncertainty_score":0.8321456,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07033957389462257,"score_gpt":0.3711929478967067,"score_spread":0.3008533740020841,"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."}}