{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00003028337,0.00006605579,0.00008569386,0.0000292249,0.0001106473,0.00000629687,0.0005031331,0.0001134972,0.000005223684],"category_scores_gemma":[0.00009707168,0.00005047232,0.00009015511,0.0002048617,0.0001533728,0.000001873047,0.0003341039,0.0001226603,5.817117e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004851978,"about_ca_system_score_gemma":0.00006134235,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002791941,"about_ca_topic_score_gemma":0.001624397,"domain_scores_codex":[0.9995556,0.00007245295,0.0001492356,0.0001058869,0.00005424552,0.00006259888],"domain_scores_gemma":[0.9986474,0.00003671406,0.00008627184,0.00110567,0.000102959,0.00002099044],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001483477,0.0001681335,0.004160026,0.00001663529,0.0001083015,2.271155e-7,0.0004302822,0.00001631562,0.9876511,0.006189737,0.0003945961,0.0008498195],"study_design_scores_gemma":[0.0006928166,0.0001174384,0.1029772,0.00005261339,0.0001387818,0.000005954894,0.002448666,0.0001437736,0.7208668,0.006087321,0.166149,0.0003196471],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9260606,0.07174601,0.0000547494,0.001298111,0.00006462555,0.0000764892,0.0000154528,0.000003662748,0.0006802741],"genre_scores_gemma":[0.9922227,0.006614459,0.0006569772,0.0001209693,0.00002597857,0.000009063624,0.0002928396,0.000008719857,0.0000482563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2667843,"threshold_uncertainty_score":0.2058201,"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."}}