{"id":"W3201617548","doi":"10.1038/s41467-021-25515-5","title":"Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Glenrose Rehabilitation Hospital; University of Alberta; BC Children's Hospital; University of Toronto; SickKids Foundation; Hospital for Sick Children; University of British Columbia","funders":"European Regional Development Fund; Dietmar Hopp Stiftung; Sapienza Università di Roma; Ministerstvo Zdravotnictví Ceské Republiky; National and Kapodistrian University of Athens; Rosetrees Trust; Instituto de Salud Carlos III; National Institute for Health and Care Research; Stichting Stofwisselkracht; AADC Research Trust","keywords":"Microcephaly; Confounding; Disease; Phenotype; Neurotransmitter systems; Pediatrics; Medicine; Movement disorders; Bioinformatics; Biology; Genetics; Internal medicine; Gene","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":[0.000529208,0.0003156794,0.0003101539,0.001467097,0.0001161681,0.0003766323,0.0001882621,0.0001883481,0.001223311],"category_scores_gemma":[0.001422071,0.00009027316,0.0001748967,0.0007170257,0.0003543154,0.0003637345,0.0005655837,0.0002727952,0.0001717956],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001236093,"about_ca_system_score_gemma":0.000190702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007783055,"about_ca_topic_score_gemma":0.001131178,"domain_scores_codex":[0.9996015,0.0001505819,0.00004291031,0.00007930546,0.00007888419,0.00004681767],"domain_scores_gemma":[0.9992833,0.0003853967,0.0001377921,0.00007428974,0.00006221172,0.00005703057],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004703545,0.00005164848,0.7337497,0.000221062,0.0001389442,0.008834573,0.001106774,0.0008407015,0.0870316,0.001738739,0.0007143785,0.1651015],"study_design_scores_gemma":[0.000008486122,0.0001248382,0.9700247,0.00004714951,0.00006026846,0.01823327,0.0005314465,0.0005077967,0.005770184,0.001593433,0.003087302,0.00001113768],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903318,0.003432986,0.003624393,0.0003460571,0.000008879269,0.000006637922,0.000546268,0.00003457274,0.001668517],"genre_scores_gemma":[0.9952572,0.002123877,0.002083214,0.0001031061,0.00001867008,0.000004408353,0.0002596393,0.000009943457,0.0001400521],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001467097,"threshold_uncertainty_score":0.004092336,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008472185680603619,"score_gpt":0.266674491145486,"score_spread":0.2582023054648824,"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."}}