{"id":"W2950347078","doi":"10.1111/cge.13583","title":"Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry","year":2019,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Sanofi Genzyme; Sanofi","keywords":"Mucopolysaccharidosis type I; Missense mutation; Hurler syndrome; Genotype; Phenotype; Allele; Genetics; Mucopolysaccharidosis; Newborn screening; Genotype-phenotype distinction; Biology; Compound heterozygosity; Disease; Mucopolysaccharidosis I; Gene; Medicine; Enzyme replacement therapy; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":["insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.000473325,0.0001427451,0.0002895851,0.00006525728,0.0000672397,0.00004229672,0.0005332517,0.0003030195,0.0009283802],"category_scores_gemma":[0.0024455,0.0001049402,0.0001186546,0.0003811462,0.0001643886,0.00004336433,0.0002379497,0.001049317,0.001827391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000965334,"about_ca_system_score_gemma":0.0003107205,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001710255,"about_ca_topic_score_gemma":0.0002938859,"domain_scores_codex":[0.9979451,0.0002219737,0.0006254113,0.0004342841,0.0005401961,0.0002330442],"domain_scores_gemma":[0.9974412,0.001239788,0.0001230357,0.0008062579,0.0002353143,0.0001543813],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003910186,0.0002743242,0.9881656,0.00001068806,0.0001063729,0.00002671191,0.0003038102,0.00004887913,0.00118916,0.0005987929,0.004059136,0.004825522],"study_design_scores_gemma":[0.001815624,0.0002547379,0.9413157,0.00006630846,0.0000515824,0.000003468627,0.0003458777,0.00262594,0.0002073022,0.003036016,0.05011551,0.0001620088],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9849343,0.002568099,0.00005867055,0.003393033,0.001198218,0.0004537874,0.00001117517,0.0000324763,0.007350237],"genre_scores_gemma":[0.9934419,0.0009827333,0.001069003,0.001387369,0.0005613104,0.000008517361,0.0000941642,0.00003300901,0.002421986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04684996,"threshold_uncertainty_score":0.9999849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09980989752947268,"score_gpt":0.3729095628438189,"score_spread":0.2730996653143462,"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."}}