{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00314866,0.0002323454,0.0005690636,0.002271743,0.0003298944,0.00094876,0.0005624155,0.0003019946,0.001958019],"category_scores_gemma":[0.01342973,0.0001818398,0.0003370286,0.004415195,0.0002452783,0.0005750117,0.001279876,0.0004045702,0.0007301964],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004018622,"about_ca_system_score_gemma":0.0006227096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006028071,"about_ca_topic_score_gemma":0.007457103,"domain_scores_codex":[0.9972832,0.0008441892,0.0006409374,0.0006248606,0.0004085933,0.0001981614],"domain_scores_gemma":[0.9875098,0.002795041,0.005245297,0.00220147,0.001675356,0.0005729476],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001877747,0.00002385865,0.9822084,0.00006249044,0.00008840115,0.0002002467,0.0002788453,0.0002485962,0.0001644207,0.0002684764,0.00402319,0.01224538],"study_design_scores_gemma":[0.00001511757,0.00006393497,0.9930524,0.00006868695,0.00007432618,0.001086476,0.0004175805,0.0002740305,0.0001562192,0.0001839405,0.004589272,0.00001808876],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9613528,0.001528536,0.0007454743,0.0003939999,0.00001804124,0.00004629402,0.03122732,0.0000591904,0.004628416],"genre_scores_gemma":[0.9608651,0.001461667,0.001305012,0.0001350253,0.00002534686,0.0001010433,0.03559355,0.00005976026,0.0004535895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006028071,"threshold_uncertainty_score":0.01665193,"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."}}