{"id":"W3215372023","doi":"10.1007/s12020-021-02826-7","title":"French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED","year":2021,"lang":"en","type":"article","venue":"Endocrine","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Sherbrooke; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill Genome Centre; McGill University; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean","funders":"","keywords":"Founder effect; Population; Muscle biopsy; Dystrophy; Medicine; Genetics; Genotype; Biology; Pathology; Biopsy; Gene; Haplotype","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":[0.0004665676,0.001412139,0.0009230007,0.002708337,0.01067389,0.002275816,0.001639281,0.001115565,0.01488625],"category_scores_gemma":[0.001320722,0.0004149201,0.0008003208,0.003910064,0.00115077,0.0004454874,0.001566577,0.001004713,0.0007843105],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008493584,"about_ca_system_score_gemma":0.01025372,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9351929,"about_ca_topic_score_gemma":0.9539974,"domain_scores_codex":[0.999143,0.00009362039,0.000042021,0.0002055601,0.0001802367,0.0003355303],"domain_scores_gemma":[0.9993011,0.00008667714,0.0000822342,0.00003328623,0.0002705874,0.0002261888],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009820736,0.0004527825,0.7988278,0.0003008864,0.0003895546,0.06685967,0.0376536,0.0003528033,0.01134229,0.007252832,0.010652,0.06493372],"study_design_scores_gemma":[0.0001705098,0.0002963595,0.8311898,0.0007014926,0.000399846,0.06277178,0.06086039,0.0008067157,0.001158377,0.001381034,0.04009425,0.0001692965],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9803843,0.001779594,0.000955444,0.001454517,0.00008103359,0.0001697017,0.002602894,0.00004835891,0.01252423],"genre_scores_gemma":[0.9812517,0.001862752,0.00202242,0.0007432529,0.00004723554,0.00008738274,0.001053869,0.00005227764,0.01287915],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06480712,"threshold_uncertainty_score":0.1303775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02012755293649715,"score_gpt":0.2732901530052972,"score_spread":0.2531626000688,"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."}}