{"id":"W2073791109","doi":"10.1038/sj.ejhg.5200471","title":"Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping","year":2000,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; Centre Hospitalier Universitaire de Sherbrooke; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Montreal General Hospital; Centre Hospitalier de l’Université de Montréal; McGill University","funders":"Medical Research Council; Medical Research Council Canada; Canadian Dermatology Foundation; National Institute of Dental and Craniofacial Research; National Foundation for Ectodermal Dysplasias","keywords":"Haplotype; Founder effect; Linkage disequilibrium; Genetics; Genetic linkage; Population; Biology; Allele; Gene mapping; Chromosome; Gene; Demography","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001266499,0.0009735669,0.0009288074,0.007149129,0.004828191,0.001327126,0.001460119,0.0006757002,0.004786603],"category_scores_gemma":[0.001666799,0.0003973104,0.0008232064,0.005635465,0.001821663,0.0002798956,0.0009503876,0.0006252427,0.000273132],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008639149,"about_ca_system_score_gemma":0.007241826,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9209923,"about_ca_topic_score_gemma":0.9512636,"domain_scores_codex":[0.9978619,0.0002163019,0.0001165228,0.0006766493,0.0005673325,0.0005612488],"domain_scores_gemma":[0.9986632,0.0003192995,0.000223277,0.0000882912,0.0004566092,0.0002494719],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002136268,0.0003170142,0.7940184,0.0002819773,0.001193497,0.007442647,0.008876247,0.001799862,0.07996386,0.005675302,0.001515824,0.09677915],"study_design_scores_gemma":[0.00004374488,0.00007840899,0.9919533,0.00003432593,0.0001667497,0.002046857,0.0008441791,0.0002805292,0.000941419,0.0001858088,0.003375287,0.00004936047],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924964,0.001578394,0.0009060862,0.0001827952,0.00001140177,0.00004943103,0.001144209,0.00002859125,0.003602849],"genre_scores_gemma":[0.9953602,0.0007418522,0.0010544,0.00004823576,0.00001071031,0.0000162939,0.0004865961,0.00002511634,0.002256615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07900769,"threshold_uncertainty_score":0.1589459,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01333241438431619,"score_gpt":0.2489554557235439,"score_spread":0.2356230413392277,"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."}}