{"id":"W2118225901","doi":"10.1136/jmg.2004.026971","title":"Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study","year":2005,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Diabetes and associated disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre; Montreal Children's Hospital","funders":"Canadian Institutes of Health Research; Genome Canada; McGill University; Juvenile Diabetes Research Foundation International; Burroughs Wellcome Fund","keywords":"PTPN22; Biology; Genetics; Population stratification; Linkage disequilibrium; Single-nucleotide polymorphism; Population; Haplotype; Protein tyrosine phosphatase; Genetic association; Allele; Gene; Genotype; Receptor; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001465065,0.0001609058,0.0003258224,0.00005907018,0.000027281,0.00001602039,0.0007691103,0.0004836043,0.00001334698],"category_scores_gemma":[0.0005797843,0.00007852584,0.0001330562,0.0003023755,0.00008876681,0.000003117095,0.00007112305,0.0009061171,2.550842e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004792965,"about_ca_system_score_gemma":0.0005215476,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002935907,"about_ca_topic_score_gemma":0.0001423179,"domain_scores_codex":[0.997023,0.0005712796,0.0006687719,0.0001211358,0.001402858,0.0002129142],"domain_scores_gemma":[0.9981519,0.00008614193,0.001225219,0.0002912744,0.0002174626,0.000028022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002899984,0.003197985,0.6257273,0.0003552616,0.0009643691,0.00004500792,0.000888958,0.001371035,0.02890814,0.000007697635,0.327064,0.01118026],"study_design_scores_gemma":[0.01802432,0.005361245,0.5732194,0.003062719,0.001051906,0.000007717468,0.001737014,0.001092162,0.07082181,0.0001041026,0.3246082,0.0009094074],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9148134,0.003322534,0.000004478818,0.08112971,0.000167959,0.0004950728,0.00003696952,6.303509e-7,0.00002926144],"genre_scores_gemma":[0.9602714,0.0001876941,0.00003449025,0.03899444,0.0003897662,0.00001039553,0.00003538148,0.00001862436,0.00005777706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05250792,"threshold_uncertainty_score":0.3936678,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006666981761939712,"score_gpt":0.2251402990387233,"score_spread":0.2184733172767836,"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."}}