{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008691874,0.0001836695,0.0002201964,0.0001742492,0.0001321324,0.00003995527,0.0005038198,0.0000807183,0.00006218768],"category_scores_gemma":[0.0000542902,0.0001453126,0.00009150071,0.0001425645,0.0001799204,0.000004285014,0.00007011579,0.0002505586,0.00000537621],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002136402,"about_ca_system_score_gemma":0.00008460246,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008963929,"about_ca_topic_score_gemma":0.005014271,"domain_scores_codex":[0.9975685,0.001101064,0.0005175033,0.0002363167,0.0002331657,0.0003433943],"domain_scores_gemma":[0.9992284,0.000037486,0.0001687248,0.0003394344,0.0000808155,0.0001450957],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000139931,0.0001647407,0.60878,0.0001477181,0.0001981954,0.001389903,0.001055972,0.003615457,0.298391,0.000006702761,0.001104452,0.08500598],"study_design_scores_gemma":[0.0009573825,0.00154721,0.9898167,0.00005605071,0.00004049421,0.001057907,0.00003799245,0.0001750615,0.005343043,0.00006875167,0.0007227065,0.0001766708],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935879,0.005333091,0.00009741583,0.00005995479,0.00006666931,0.0002343827,0.000005078912,0.00000175544,0.000613759],"genre_scores_gemma":[0.9984124,0.0004995189,0.0005502194,0.00005995543,0.0003047335,0.000002087294,0.00001872245,0.00002858231,0.0001238325],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3810368,"threshold_uncertainty_score":0.5925674,"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."}}