{"id":"W3170980390","doi":"10.3389/fneur.2021.668640","title":"NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum","year":2021,"lang":"en","type":"article","venue":"Frontiers in Neurology","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Radboud Universitair Medisch Centrum; Rigshospitalet; Gentofte Hospital; Radboud Universiteit","keywords":"Biology; Psychology; Evolutionary biology; Computational biology; Genetics","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":[0.0005249007,0.0005162442,0.0002996612,0.001985481,0.0004329147,0.0003864324,0.000348121,0.0003594932,0.001790263],"category_scores_gemma":[0.001364057,0.0001223708,0.0002154755,0.001062736,0.0005333076,0.0003066764,0.0008924154,0.0002344756,0.000240852],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003504907,"about_ca_system_score_gemma":0.0004474014,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00242578,"about_ca_topic_score_gemma":0.002532318,"domain_scores_codex":[0.9995596,0.00007436954,0.00006020367,0.0001568825,0.00008213922,0.00006693646],"domain_scores_gemma":[0.9994062,0.0001101558,0.0002102866,0.00003648262,0.00009086687,0.000145915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001868594,0.00004026564,0.9854153,0.00001601528,0.00001642459,0.005545313,0.0001990705,0.00008403099,0.003749975,0.0001735624,0.0001581154,0.004415038],"study_design_scores_gemma":[0.00002932275,0.0001961339,0.9476767,0.00003857982,0.00002714059,0.04866649,0.000624302,0.0005440374,0.0009206506,0.0003184031,0.0009450884,0.00001326157],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986589,0.0001684023,0.0001920859,0.00002889394,0.000003321708,0.00001941857,0.000243779,0.000005258405,0.0006798749],"genre_scores_gemma":[0.9987967,0.0001246577,0.0005115381,0.00001980003,0.000007367428,0.00001575383,0.0004205289,0.000003770328,0.00009991518],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00242578,"threshold_uncertainty_score":0.005989015,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01308758592525042,"score_gpt":0.2746335386447458,"score_spread":0.2615459527194954,"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."}}