{"id":"W3079382483","doi":"10.1002/ana.25879","title":"Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities","year":2020,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Autophagy in Disease and Therapy","field":"Medicine","cited_by":110,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Universität Innsbruck; Ministry of Education – Kingdom of Saudi Arabi; Medizinische Universität Innsbruck; Vedecká Grantová Agentúra MŠVVaŠ SR a SAV; Medical Research Council Canada; Technische Universität München; Agentúra na Podporu Výskumu a Vývoja; Helmholtz Zentrum München; National Institute for Health and Care Research; Fonds Psychische Gezondheid; Dystonia Medical Research Foundation; ZonMw; Department of Health and Aged Care, Australian Government; Rosetrees Trust; European Commission; National Health and Medical Research Council; Academy of Medical Sciences; Cancer Research UK; Else Kröner-Fresenius-Stiftung; European Social Fund; Univerzita Karlova v Praze; Wellcome Trust","keywords":"Dystonia; Loss function; Phenotype; Exome sequencing; Gene; Compound heterozygosity; Medicine; Biology; Genetics; Neuroscience","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004198315,0.0005781541,0.00133652,0.0003806271,0.0001428197,0.00003495716,0.0003265089,0.0004830493,0.0000304815],"category_scores_gemma":[0.001422825,0.0005376521,0.000212552,0.0007418118,0.0007386775,0.0003149146,0.0001609562,0.0006454547,0.00002648849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001447305,"about_ca_system_score_gemma":0.000267143,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000264217,"about_ca_topic_score_gemma":0.0001316154,"domain_scores_codex":[0.9960182,0.0006062486,0.0009683426,0.0008259289,0.0006083862,0.0009729187],"domain_scores_gemma":[0.9957384,0.002051553,0.0007183903,0.0005287644,0.0004518755,0.0005110086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009239209,0.001401398,0.9492283,0.0004788569,0.001955688,0.002945671,0.005599714,0.000208929,0.02195418,0.0009910832,0.01384954,0.0004627371],"study_design_scores_gemma":[0.004568787,0.00656996,0.9703812,0.00008597277,0.0003614045,0.0002849729,0.0003944148,0.0003919245,0.01070232,0.0009690877,0.005211807,0.00007817073],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938979,0.00217002,0.00003775163,0.001519892,0.0001937776,0.0006310897,0.0003162751,0.0001512332,0.001082105],"genre_scores_gemma":[0.9861161,0.001146583,0.00004199514,0.01183722,0.0002094731,0.00004523843,0.0002016171,0.0001011022,0.0003006662],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0211529,"threshold_uncertainty_score":0.9997075,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04941958616020292,"score_gpt":0.2791824880370186,"score_spread":0.2297629018768157,"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."}}