{"id":"W3045281070","doi":"10.1016/j.ajhg.2020.06.015","title":"Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia","year":2020,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":54,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Institutes of Health; Bundesministerium für Bildung und Forschung; Radboud Universitair Medisch Centrum; Cosmetic Surgery Foundation; Deutsche Forschungsgemeinschaft; E-Rare","keywords":"Medicine; Spastic; Paraplegia; Allele; Hereditary spastic paraplegia; Encephalopathy; Disease; Cerebral palsy; Pediatrics; Biology; Genetics; Internal medicine; Physical therapy; Psychiatry; Phenotype; Gene; Spinal cord","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":[0.0001940283,0.001453272,0.0003293614,0.0009075777,0.0005085158,0.0004869937,0.0003506488,0.000702945,0.002925495],"category_scores_gemma":[0.0006429925,0.0002563831,0.0002732075,0.001037502,0.0003942233,0.0002727276,0.0008209895,0.000497924,0.0006722532],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000235992,"about_ca_system_score_gemma":0.0001912149,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002162066,"about_ca_topic_score_gemma":0.002557035,"domain_scores_codex":[0.9997395,0.00003236542,0.00005246496,0.00007120652,0.00006216302,0.00004229284],"domain_scores_gemma":[0.9996088,0.00008619046,0.0001218449,0.0000251613,0.00005042941,0.0001075839],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003296567,0.0003433033,0.3894586,0.0002175905,0.0007043519,0.1842703,0.001204371,0.0004624813,0.3869708,0.001964478,0.002962829,0.02814427],"study_design_scores_gemma":[0.0001654856,0.0004893039,0.717842,0.0001058089,0.0004266633,0.244837,0.0009298751,0.001153004,0.02743219,0.001454676,0.005111451,0.00005264043],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949411,0.000456082,0.001236334,0.0001881814,0.00004759759,0.00002097279,0.0007918137,0.00005303189,0.002264883],"genre_scores_gemma":[0.9981073,0.0001638642,0.0006151356,0.00008936298,0.00002552011,0.000007145769,0.0003831215,0.00002406741,0.0005844691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002925495,"threshold_uncertainty_score":0.009786725,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04601899703897177,"score_gpt":0.2859394185962124,"score_spread":0.2399204215572406,"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."}}